This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 37 genes which c... Read moreause hereditary cancer, including the main genes which cause hereditary breast and ovary cancers.

“Whole Genome Sequencing” is the most comprehensive test based on Next Generation Sequencing (NGS), which analyzes intronic and exonic regions of the 20,000 genes in the human genom... Read moree, non-coding regions (including regulatory sequences), CNVs (Copy Number Variation) and mitochondrial DNA. This test is a powerful tool for diagnosing thousands of genetic diseases. It is important to emphasize that Whole Genome Sequencing does not identify genetic diseases that are caused by nucleotide expansions, uniparental disomy (UPD) or imprinting. Furthermore, despite being the most comprehensive genetic test, about 85% of genetic variations that cause disease are located in the exons, covered by the Whole Exome Sequencing test.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Read more with hereditary forms of melanoma and other types of skin and associated cancers.

“Whole Exome Sequencing” or “WES” is a Next Generation Sequencing (NGS) test that simultaneously analyzes nearly all the exons of the 20,000 genes in the human genome + CNVs (Co... Read morepy Number Variation) + mitochondrial DNA. Although exons represent 2% of the genome, about 85% of the genetic variations that cause disease are located in these regions. This test is a powerful tool for diagnosing thousands of genetic diseases. The test can be requested for patients with suspected genetic diseases (for example: skeletal dysplasias and muscular dystrophies) and for patients with a clinical condition that is suggestive of a genetic disease, but without a specific suspicion (Example: intellectual disability, congenital anomalies etc). WES can also be requested when there is a clinical condition that can be caused by multiple different genes, for which there is no panel containing all the genes of interest. It is important to emphasize that WES does not identify genetic diseases that are caused by nucleotide expansions, variations in non-coding regions of the genome, uniparental disomy (UPD) or imprinting. The Mendelics WES test is very comprehensive, including the analysis of point mutations (substitutions), indels (small insertions and deletions), CNVs (Copy Number Variation) and mitochondrial DNA.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 58 genes associa... Read moreted to different forms of ichthyosis and ectodermal dysplasias, including Sjögren-Larsson syndrome.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 25 genes causing... Read more epidermolysis bullosa.

For Mendelian diseases which are not covered by the listed tests, Mendelics may conduct the complete sequencing (exons and flanking intronic regions) and evaluation of the number of cop... Read moreies (CNV) through next generation sequencing (NGS) of specific genes on a customized assay.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes a... Read moressociated with hereditary forms of recurrent pancreatitis, including 9 genes related to hyperlipoproteinemia.

The Mitochondrial Disease Panel (Nuclear and Mitochondrial DNA) analyzes, through the NGS technique, genes related to mitochondrial diseases caused both by nuclear DNA and mitochondrial... Read more DNA mutations, including mitochondrial complex deficiencies, oxidative phosphorylation defects, mitochondrial depletion syndromes, Leigh syndrome, MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis and apoplexy-like episodes), Leber’s hereditary optic neuropathy, among others.

This panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 42 genes associated... Read more with hereditary gastric and colorectal cancer (forms with or without polyposis). The PMS2 gene is fully analyzed, however its analysis is subject to pseudogene interference.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Read more the pathologic iron accumulation. This test sequences all the codifying regions of the investigated genes, not only the two common variants of HFE gene (H63D and C282Y).

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of alfa-1-antitrips... Read moreina genes related to Progressive Familial Intrahepatic Cholestasis (PFIC) and differential diagnoses such as cystic fibrosis and alpha-1-antitrypsin deficiency.

This MLPA test identifies microdeletions or microduplications in 20p12 gene and allows the diagnosis of individuals with clinical suspicious of Alagille syndrome.The Alagille syndrome... Read more is a disease which may affect the liver, the heart and other parts of the body. Variants detected only in JAG1 gene sequencing test cause Alagille syndrome in about 90% of the cases. Other 7% of the individuals with the syndrome are carriers of microdeletions in chromosome 20 (20p12), which include JAG1.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes which caus... Read moree rare diseases of early onset and with available treatment. This panel includes all the Innate Metabolism Errors Panel genes, in addition to the analysis of genes for other rare disease classes, with neurological, immunological, hematological, metabolic, endocrine, renal, hepatic and gastrointestinal manifestations. The panel is recommended to diagnose symptomatic patients or those with altered results in other laboratory tests.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 70 genes more fr... Read moreequently associated with the hereditary forms of nephrotic syndrome, including Alport Syndrome and Focal segmental glomerulosclerosis (FSGS).

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 49 genes associa... Read moreted to polycystic renal diseases, including PKD1 (Polycystic Kidney Disease type 1), PKD2 (Polycystic Kidney Disease type 2), PKHD1 (Polycystic Kidney and Liver Disease) and NOTCH2 (Hajdu-Cheney Syndrome).

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 264 genes relate... Read mored to different treatable disorders of the renal function, including Bartter syndrome, Liddle syndrome, nephrogenic diabetes insipidus, Hypomagnesemia, renal tubular acidosis, Gittelman syndrome, Fabry disease, among others.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 6 main genes ass... Read moreociated with susceptibility to atypical hemolytic-uremic syndrome.

This comprehensive panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes... Read more related to different kidney disorders, including Bartter syndrome, Liddle syndrome, nephrogenic diabetes insipidus, Hypomagnesemia, renal tubular acidosis, Gittelman syndrome, Fabry disease, Nephrotic Syndrome, Hemolytic-Uremic Syndrome, Polycystic renal diseases, Hajdu-Cheney Syndrome, among others.The MUC1 gene, associated with cystic renal medullary disease type 1 (MCKD1), is also analyzed. Pathogenic variants that affect variable number tandem repeats (VNTR) in this gene are difficult to detect by NGS sequencing techniques. This exam employs long-read sequencing, capable of accurately evaluating repetitive regions of the MUC1 gene.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genetic... Read more susceptibility genes associated with thrombosis, including Leiden"s Factor V, Prothrombin deficiency, Anti-Thrombin III deficiency, Protein C deficiency, Protein S deficiency and Thrombotic Thrombocytopenic Purpura.Note: MTHFR gene is not included in the panel because it’s a recommendation of multiple medical societies that such gene is not investigated due to the weak evidence of its relationship with thrombophilias.

This MLPA test identifies microdeletions or microduplications in region 22q11.2 and allows the diagnosis of patients with clinical suspicion of velocardiofacial and DiGeorge syndromes (... Read more22q11.2 - 22q11.2 DS deletion syndromes)The 22q11.2 deletion syndromes are particularly characterized by learning difficulty, characteristic facial signs, cardiac, palatal and immunological anomalies, among others.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 59 genes related... Read more to a number of primary immunodeficiencies, and other immune system diseases, including agamaglobulinemias (Antibody Deficiency), functional neutrophil deficiencies and neutropenias, chronic granulomatous diseases, hemophagocytic lymphohistiocytoses, atypical mycobacterioses, among others.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Read more immunodeficiencies and other immune diseases of genetic etiology. The panel includes lymphoproliferative and Hyper-IgE syndrome.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of F8 and F9 genes... Read more, which respectively cause, Hemophilia A and Hemophilia B.Note: The severe Hemophilia A has as its main cause two variants (Inv22 and Inv1 in F8 gene) which are not analyzed in this test. Contact us for further information.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 4 genes related... Read more to genetic anemia conditions, including: Sickle-Cell Anemia, Beta Thalassemia, G6PD Deficiency, Shwachman-Bodian-Diamond Syndrome and Thiamine-Responsive Megaloblastic Anemia.

The test allows the identification of the most frequent genetic change in individuals with severe Hemophilia A, the inversions in intron 1 and 22 of F8 gene.Hemophilia A is a genetic... Read more condition, where the blood does not properly clot. Excessive bleeding and hematomas, sometimes spontaneous, are symptoms of the disease.People with Hemophilia type A lack factor VIII, a protein produced by F8 gene. The inversions in intron 1 and 22 of F8 gene, identified in this test, cause approximately 48% of the severe Hemophilia A cases.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Read more Fanconi Anemia.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes a... Read moressociated withcoagulation disorders, including hemophilias A and B, platelet disorders, deficiency of factors V, VII, X, XI, XII, XIII and XIIIb, among others.Attention: this test does not detect the two main mutations of Factor VIII associated withsevere hemophilia type A (Inv22 and Inv1) - the test for such mutations can be requested separately.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 54 genes related... Read more to autoinflammatory diseases.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 61 genes associa... Read moreted with Marfan syndrome and its differential diagnoses, including the Loeys-Dietz syndrome, hemocystinuria, genes of susceptibility to the development of ortic aneurysm, Stickler syndrome, Ehlers-Danlos syndrome, among others.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Read more primary ciliary dyskinesia.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Read more dyslipidemias. The dyslipidemias cause elevation of the cholesterol level (hypercholesterolemia) and triglycerides (hipertriglyceridemia), and may lead to acute myocardial infarction.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the genes more f... Read morerequently associated with different forms of hereditary myocardiopathy, including dilated myocardiopathies, hypertrophic myocardiopathies, ventricular non-compaction, among others.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 23 genes associa... Read moreted to an increased risk for the development of primary aortic aneurysm, including the genes which cause Cutis Laxa, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, Marfan Syndrome, Meester-Loeys Syndrome, Shprintzen-Goldberg Syndrome, among others.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes which caus... Read moree several forms of hereditary arrhythmias, including Brugada Syndrome, Long QT Syndrome, Short QT Syndrome, among others.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of RB1 gene. The te... Read morest allows the diagnosis of patients with suspected retinoblastoma.RB1 gene is a tumor suppressor gene which regulates cell growth. Retinoblastoma is a malignant tumor which develops in the retina, generally before five years old. Variants detected only in RB1 gene sequencing test (point mutations) are identified in more than 80% of the affected individuals. Microdeletions or microduplications (CNV) in the gene are responsible for up to 20% of the cases.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Read more genetic etiology retinopathies, including different forms of pigmentary retinosis, Bardet Biedl syndrome, Stargardt disease, cones and rods dystrophy, neuronal ceroid lypofuscinosis, Usher syndrome, Leber Congenital Amaurosis and others.

Corneal Diseases Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Read more different forms of syndromic and non-syndromic deafness of genetic etiology.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of GJB2 (Connexin 2... Read more6 or Cx26) and GJB6 (Connexin 30) genes, more frequently associated to hereditary deafness.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 67 genes which m... Read moreay result in different forms of short stature.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 24 genes related... Read more to Neonatal Diabetes, Hyperinsulinemic Hypoglycemia, Congenital Hypothyroidism, Congenital Pituitary Deficiency, Congenital Adrenal Hyperplasia, Congenital Adrenal Hypoplasia.All the panel diseases are potentially treatable if diagnosed early.NOTE – Gene CYP21A2 is not included in the panel.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 10 genes related... Read more to hereditary susceptibility for pheochromocytoma and paraganglioma.

This NGS panel of Monogenic Diabetes (Maturity-Onset Diabetes of the Young - MODY) performs the complete sequencing (exons and flanking intronic regions) and evaluation of the number of... Read more copies (CNV) through next generation sequencing (NGS) of genes related to this condition. The Panel includes 11 types of MODY that have already been strongly associated with specific genes. Types 8, 9 and 11 are not covered at the moment.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Read more with the hereditary predisposition to thyroid cancer and other endocrine neoplasias, including MEN1 and RET genes (MEN2A), the most frequently related to endocrine neoplasias.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes a... Read moressociated to male infertility. The analysis includes CFTR gene, which is associated to deferent duct agenesis.Note: Deletions in the AZF region of chromosome Y and chromosomal changes which may be associated to male infertility are not evaluated in this panel.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Read more with the predisposition to thyroid cancer and other endocrine neoplasias, including MEN1 and RET genes (MEN2A).

This exam sequences the CPY21A2 gene by Sanger Sequencing, in addition to the identification of microdeletions or microduplications by MLPA, enabling the diagnosis of individuals with s... Read moreuspected Congenital Adrenal Hyperplasia. This syndrome is caused by a deficiency of steroidogenic enzymes such as 21-hydroxylase. Between 90-95% of the cases are caused by alterations in the CPY21A2 gene (6p21.3).

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of TSC1 (Tuberous S... Read moreclerosis type 1) and TSC2 (Tuberous Sclerosis type 2) genes.

This test investigates the presence of nucleotide expansions in SCA1, SCA2, SCA3 and SCA6 genes for the diagnosis of individuals with clinical specific suspicion of spinocerebellar atax... Read moreias types 1, 2, 3 and 6.The spinocerebellar ataxias (SCA) are part of a clinical and genetically heterogeneous group of more than 30 autosomal dominant cerebellar ataxias. Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary.Other genes associated withother spinocerebellar ataxias, such as SCA7, SCA10, SCA12, SCA17, ATN1, among others, are not included in this test.

This CACNA1A gene expansion test allows the diagnosis of individuals with clinical suspicion of spinocerebellar ataxia type 6 (SCA6).The SCA6 is part of a clinical and genetically het... Read moreerogeneous group of more than 30 autosomal dominant cerebellar ataxias (SCA). Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary.SCA6 is caused by the abnormal expansion of trinucleotide ‘CAG’ in CACNA1A gene. This segment normally presents less than 19 repetitions. In people with spinocerebellar ataxia type 6, the segment presents between 20 and 33 ‘CAG’ repetitions.

This ATXN7 gene expansion test allows the diagnosis of individuals with clinical suspicion of spinocerebellar ataxia type 7 (SCA7).The SCA7 is part of a clinical and genetically heter... Read moreogeneous group of more than 30 autosomal dominant cerebellar ataxias (SCA). Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary.SCA7 is caused by the expansion (abnormal increase) of trinucleotide ‘CAG’ in ATXN7 gene. This segment normally presents less than 19 repetitions. In people with spinocerebellar ataxia type 6, the ‘CAG’ segment presents between 37 and 460 repetitions.

This ATXN3 gene expansion test allows the diagnosis of individuals with clinical suspicion of spinocerebellar ataxia type 3 (SCA3), also know as Machado-Joseph disease.The SCA3 is par... Read moret of a clinical and genetically heterogenous group of more than 30 autosomal dominant cerebellar ataxias (SCA). Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary.SCA3 is caused by the abnormal increase (expansion) of ‘CAG’ trinucleotide in ATXN3 gene. This segment normally presents between 12 and 44 ‘CAG’ repetitions. In people with SCA3, the ‘CAG’ segment presents between 60 and 87 repetitions.

This test conducts the sequencing of SMN1 gene. The test allows the diagnosis of patients with suspected Progressive Spinal Atrophy (PSA), also known as Spinal Muscular Atrophy (SMA).... Read more This test is recommended for patients who have already previously conducted the MLPA test.PSA is a neurodegenerative disease characterized by the loss of motor neurons leading to weakness and muscular atrophy. Variants in SMN1 gene cause the disease. Around 95% of the patients with PSA are carriers of deletion which comprises the two copies of exon 7 of SMN1 gene (maternal and paternal copies). Around 5% of the people with the disease, are carriers of microdeletion of exon 7 in one of the copies of the gene and in the other copy are carriers of changes detected only in sequencing tests (indels and substitutions) of SMN1 gene.

This ATXN10 gene expansion test allows the diagnosis of individuals with clinical suspicion of spinocerebellar ataxia type 10 (SCA10).The SCA10 is part of a clinical and genetically h... Read moreeterogenous group of more than 30 autosomal dominant cerebellar ataxias (SCA). Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary.SCA10 is associated with the abnormal increase (expansion) of ‘ATTCT’ pentanucleotide in the intronic region of ATXN10 gene. This segment normally contains between 9 and 32 ‘ATTCT’ repetitions. In people with SCA10, the ‘ATTCT’ segment presents from 800 to more than 4,000 repetitions.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Read more with the superior motor neuron diseases such as amyotrophic lateral sclerosis and hereditary spastic paraplegias.This test does not include the C9orf72 gene expansion investigation.

This MLPA test identifies microdeletions or microduplications in MECP2 gene and allows the diagnosis of individuals with clinical suspicion of Rett syndrome.The Rett syndrome is a neu... Read morerological disease which particularly affects the female gender, causes changes in MECP2 gene, located in chromosome X.Variants detected only in MECP2 gene sequencing test (point mutations) are identified in 90% of the individuals affected by the syndrome. The gene microdeletions may also cause the disease and the MLPA test can be requested in case of negative result in the sequencing test.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Read more to different peripheral neuropathies, including different forms of Charcot-Marie-Tooth disease, sensitive-autonomic neuropathies, erythromelalgias and congenital insensitivity to pain. The panel also includes familial amyloidosis genes and distal spinal muscular atrophy (forms not related to SMN1/SMN2).

This test performs the complete sequencing (exons and flanking intronic regions) and evaluation of the number of copies (CNV) through next generation sequencing (NGS) of MECP2 gene. The... Read more test allows the diagnosis of patients with suspected Rett syndrome.The Rett syndrome is a neurological disease that particularly affects the female gender, caused by changes to MECP2 gene, located in the long arm of chromosome X. Variants detected only in MECP2 gene sequencing test (point mutations) are identified in 90-95% of the individuals affected by the syndrome.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of NF1 (Neurofibrom... Read moreatosis type 1), NF2 (Neurofibromatosis type 2), SMARCB1, and LZTR1 genes.

The test of DMPK gene expansion allows the diagnosis of individuals with clinical suspicion of myotonic dystrophy type I – Steinert (DM type I).The myotonic dystrophy type I is a di... Read moresease which causes weakness and progressive muscular atrophy. The disease can also be accompanied by other symptoms including cataracts, hormone and cardiac changes.DM type I is caused by an abnormal expansion of trinucleotide ‘CTG’ in DMPK gene. This segment normally presents between 5 and 34 ‘CTG’ repetitions. In people with DM type I, the segment presents between 50 and 5,000 ‘CTG’ repetitions. Expansions in the intermediate range (36 to 50 CTG repetitions), known as “pre-mutation”, do not cause the disease, however, there"s a risk for the carrier’s children because there can be an increase in the number of ‘CTG’ repetitions in the following generation.

The test of CNBP gene expansion allows the diagnosis of individuals with clinical suspicion of myotonic dystrophy type II.The disease is characterized by myopathy, muscular weakness... Read more and other signs which include cardiac changes, cataracts and diabetes mellitus, among others.The DM type II is caused by the presence of abnormal expansion of tetranucleotide ‘CCTG’ in intron 1 of CNBP gene. This segment normally presents between 11 and 26 repetitions. In people with DM type II, the segment presents between 75 and 11,000 copies of ‘CCTG’.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes c... Read moreausing neuromuscular diseases. Different forms of congenital myopathy, muscular dystrophy and congenital myasthenias are included in this panel.

This MLPA test identifies microdeletions or microduplications in DMD gene and allows the diagnosis of individuals with clinical suspicion of Duchenne muscular dystrophy.The Duchenne... Read more muscular dystrophy is a X-linked genetic disease with recessive inheritance, affecting especially men. The disease is characterized by weakness and progressive muscular loss (atrophy) and dilated cardiomyopathy. More than 5,000 variants in DMD gene were identified in people with Duchenne muscular dystrophy. Microdeletions or microduplications comprising DMD exons cause most of the disease cases (65-80%). Variants detected only in DMD gene sequencing test (point mutations) are identified in 20-35% of the individuals affected by the syndrome.

This MLPA test identifies microdeletions or microduplications in exons 7 and 8 of SMN1 and SMN2 genes and allows the diagnosis of individuals with clinical suspicion of Progressive Spin... Read moreal Atrophy (PSA), also known as Spinal Muscular Atrophy (SMA)PSA is a neurodegenerative disease characterized by the loss of motor neurons leading to weakness and muscular atrophy. Pathogenic variants in SMN1 gene cause the disease. Around 95% of the patients with PSA are carriers of microdeletion which comprises the two copies of exon 7 of SMN1 gene (maternal and paternal copies). Around 5% of the people with the disease, are carriers of microdeletion of exon 7 in one of the copies of the gene and in the other copy are carriers of changes detected only in sequencing tests (point mutations) of SMN1 gene.The number of copies of SMN2 gene is significantly variable in the population and the identification of this number in patients with PSA is also important to determine the severity of the disease and the starting age, once the gene, along with SMN1, modulates the phenotype of these patients.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 139 genes which... Read more cause changes to the white substance of the central nervous system, including Adrenoleukodystrophy, Canavan disease, Vanishing White Matter and peroxisomal diseases such as Refsum and Zellweger.

This AR gene expansion test allows the diagnosis of individuals with clinical suspicion of Kennedy disease.The Kennedy disease, also called spinal and bulbar muscular atrophy, is a ne... Read moreurodegenerative disease which affects motor neurons. The affected individuals present muscular weakness and atrophy.The Kennedy disease is caused by the abnormal expansion of ‘CAG’ trinucleotides in AR gene, located in chromosome X. This segment normally presents between 5 and 34 ‘CAG’ repetitions. In people with Kennedy disease, the segment contains more than 35 ‘CAG’ repetitions. The syndrome prevalently affects males.

This test conducts the sequencing and evaluation of the number of copies (CNV) of TTR gene through the NGS technique. The test allows the diagnosis of patients with suspected transthyre... Read moretin-associated familial amyloidotic polyneuropathy (FAP).The FAP or Paramyloidosis is a condition with autosomal dominant inheritance, slowly progressive, characterized by the accumulation of abnormal deposits of a protein called amyloid (amyloidosis) in different organs and tissues of the body. When the condition results from mutations in the transthyretin gene (TTR), it’s also called transthyretin-related amyloidosis or simply TTR amyloidosis.More than 150 variants in TTR are associated with FAP, being Val50Met or V50M, the most frequent of them. Variants detected only in the TTR gene sequencing test (point mutations) are identified in more than 99% of the individuals affected by the syndrome.

This HTT gene expansion test allows the diagnosis of individuals with clinical suspicion of Huntington disease.The Huntington disease is a neurodegenerative disease which causes motor... Read more, cognitive and psychiatric changes. The symptoms start in the adult age, generally between 35 and 44 years old.The Huntington disease is caused by the abnormal expansion of trinucleotide ‘CAG’ in HTT gene. This segment normally presents 35 or less ‘CAG’ repetitions. In people with Huntington disease, the "CAG" segment contains more than 35 ‘CAG’ repetitions. Individuals with 27 to 35 ‘CAG’ repetitions do not develop Huntington, but are at risk of having children affected by the disease.Note: this test is indicated for symptomatic patients (with clinical manifestation). For minors, the conduction of the test will be subject to analysis by our medical team.

This FXN gene expansion test allows the diagnosis of individuals with clinical suspicion of Friedreich ataxia.Friedreich ataxia is a disease which affects the nervous system and cause... Read mores ataxia before 25 years old.The disease is caused by the abnormal increase (expansion) of trinucleotides ‘GAA" in intron 1 of FXN gene. This segment normally contains between 5 and 33 ‘GAA’ repetitions. In people with Friedreich ataxia, the ‘GAA’ segment presents between 66 and 1,000 repetitions. On very rare ocasions (< 3% of the cases), variants in the FXN codifying region and detectable in sequencing tests may also cause the disease.

The Mendelics Expansion Diseases Panel is an innovative test designed to detect repeat expansions that cause seven neurological diseases: Spinocerebellar Ataxia (SCA1, SCA2, SCA3), Hunt... Read moreington’s Disease, Huntington-like Disease 2, X-linked Spinal and Bulbar Muscular Atrophy (Kennedy’s Disease), and Myotonic Dystrophy Type 1. These diseases cannot be detected by conventional NGS sequencing. To overcome this limitation, Mendelics employs a differentiated NGS methodology combined with advanced data analysis algorithms.

The molecular test of FMR1 gene allows the diagnosis of individuals with clinical suspicion of X-Fragile syndrome (XFS), the main genetic cause of intellectual disability after Down syn... Read moredrome.The XFS is caused by the abnormal expansion of trinucleotide ‘CGG’ in FMR1 gene, located in chromosome X, and particularly affects male individuals.This segment normally presents between 5 and 44 ‘CGG’ repetitions. In people with X-Fragile Syndrome, the ‘CGG’ segment presents more than 200 repetitions.Individuals with 55 to 200 ‘CAG’ repetitions, called “pre-mutation” do not develop the X-Fragile Syndrome, but women with expansions in this range are at risk of having children with the disease.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Read more with conditions including epilepsy, notedly epileptic encephalopaties and epilepsies of difficult control with drugs, as the main symptom, including Dravet syndrome, ceroid lipofuscinosis, tuberous sclerosis, non-ketotic hyperglycinemia and several other diseases.

The DNAmplo diagnostic support program offers a free next generation sequencing (NGS) panel exam that includes genes related to Early-Onset Neuromuscular Disorders. Only available in Br... Read moreazil.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes... Read more causing dystonias, including genes associated to Dopa-Responsive Dystonia, DYT1, and several others.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Read more with neuromuscular disorders. Different forms of muscular dystrophies, myopathies, amyotrophies and myasthenias are included in this panel.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 60 genes involve... Read mored in early and/or familial forms of Alzheimer’s Disease, Frontotemporal Dementia, Parkinson’s Disease and Alexander Disease.This test does not include the analysis of the APOE4 (apolipoprotein E) allele or the expansion in the C9orf72 gene, which should be requested separately.

This MLPA test indentifies microdeletions or microduplications in PMP22 gene and allows the diagnosis of individuals with clinical suspicion of Charcot-Marie-Tooth type 1A (CMT type 1A)... Read more and HNPP – hereditary neuropathy with pressure palsy.The Charcot-Marie-Tooth disease is the most frequent hereditary peripheral neuropathy in the population. There are several disease subtypes. Changes in PMP22 gene are responsible for ~ 70-80% of all the CMT type 1 cases. This form of disease, also called CMT type 1A, is caused mainly by a microduplication of ~1.5 Mb in the short arm of chromosome 17, including PMP22 gene. The microdeletion of the same segment of ~ 1.5 Mb causes another disease, the hereditary neuropathy with pressure palsy (HNPP).Microdeletion is present in approximately 80% of the affected individuals; and the other 20% are carriers of changes in PMP22 gene detectable only in the sequencing test.

This RFC1 gene expansion test allows the diagnosis of individuals with clinical suspicion of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS).This test detects th... Read moree expansion (abnormal increase) of pentanucleotides ‘AAGGG’ in the RFC1 gene.

This C9orf72 gene expansion test allows the diagnosis of individuals with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), of early onset or with familial recurren... Read morece.The ALS is a progressive disease that affects the motor neurons, specialized cells that control the muscular movement and are found in the spinal cord and in the brain. In ALS, the motor neurons die (atrophy) over time, leading to muscular weakness, loss of muscular mass and inability to control the movement.One of the familial ALS forms is caused by the abnormal increase of hexanucleotide ‘GGGGCC’ expansion in C9orf72 gene. This segment normaly presents less than 25 repetitions. In people with ALS associated withC9orf72 gene, the "GGGGCC’ segment presents more than 60 ‘GGGGCC’ repetitions. Around 20% of the patients with ALS caused by the expansion of C9orf72 gene may also develop frontotemporal dementia (FTD), progressive cerebral disorder which affects the personality, the behavior and the language.It’s important to emphasize that other genes also cause familial ALS (SOD1, TARDBP, FUS among others).

This test conducts the sequencing and evaluation of the number of copies (CNV) of NOTCH3 gene through the NGS technique. The test allows the diagnosis of patients with suspected cerebra... Read morel arteriopathy, a disease known as CADASIL.CADASIL is a neurogenetic disease caused by pathogenic variants in NOTCH3 gene. It’s clinically characterized by recurrent ischemic attacks, headache, progressive cognitive decline and psychiatric disorders. More than 270 variants in NOTCH3 have already been associated to CADASIL. Variants detected only in NOTCH3 gene sequencing test (point mutations) are identified in more than 95% of the affected individuals.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes which were... Read more previously associated to the Autism Spectrum Disorder (ASD).

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Read more recessive and dominant forms of ataxia. This panel includes the investigation for Ataxia-Teleangiectasia, Ataxia with Oculomotor Apraxia, among others.It’s important to emphasize that this test sequences the gene codifying regions of the panel and does not test the presence of expansion which are the main cause of many autosomal dominant inheritance ataxias with onset in the adult age (SCA1, SCA2, SCA3, SCA6, SCA7, SCA10, SCA12, DRPLA, or others). For this reason, for cases of dominant ataxias of onset in the adult age, the test must be preceded by the Expansion Ataxia Panel. It also does not evaluate the expansion in FXN gene generally associated with Friedreich ataxia.

The SNP-array test simultaneously investigate thousands of regions in the human genome to identify variations in the number of copies (CNV; Copy Number Variations). The CNV covers delet... Read moreions (loss) or duplications (gains) which may affect one or more genes and even large chromosomal segments.The microarray can diagnose patients with suspected microdeletion and microduplication syndromes and is recommended to clarify several clinical suspicions of unknown cause, including intellectual disability and congenital malformations.The high density SNP-array provides the following advantages: - High resolution for CNV identification. - Increased coverage in dosage-sensitive genes. - Detection of mosaic changes and absence of heterozygosity (AOH).

This MLPA test identifies microdeletions or microduplications in APC gene. The test is indicated for individuals with clinical suspicion of familial adenomatous polyposis (FAP).FAP is... Read more caused by the presence of heterozygous pathogenic variants in the APC gene and is characterized by the presence of multiple adenomatous polyps in the entire gastrointestinal tract, particularly in the colon. Variants detected only in APC gene sequencing test (point mutations) are identified in 90% of the individuals affected by the disease. The microdeletions or microduplications, are responsible for the remaining cases.

This MLPA test identifies microdeletions or microduplications in BRCA1 gene. The test is indicated for patients with suspected hereditary breast and ovary cancer.Heterozygous pathoge... Read morenic variants in BRCA1 significantly increase the risk of developing breast cancer (risk of 46% to 87%) and ovary cancer. Variants detected only in BRCA1 gene sequencing test (point mutations) are identified in >80% of the cases. Microdeletions or microduplications are responsible for around 10% of the cases.BRCA1 gene variants can also indicate predisposition to other types of hereditary tumors including prostate and pancreatic cancers.

This MLPA test identifies microdeletions or microduplications in ATM gene and allows the diagnosis of individuals with clinical suspicion of ataxia-telangiectasia or hereditary cancer.... Read moreAtaxia-telangiectasia is a disease which affects the nervous system, the immune system and other body systems. Pathogenic variants in both copies of ATM gene cause the disease. Variants in a single copy predispose to breast cancer and other types of cancer. Variants detected only in ATM gene sequencing test (point mutations) are identified in 90% of the cases. Microdeletions or microduplications are responsible for around 1-2% of the cases.

This MLPA test identifies microdeletions or microduplications in BRCA2 gene. The test is indicated for patients with clinical suspicion of hereditary breast and ovary cancer.Heterozy... Read moregous pathogenic variants in BRCA2 gene significantly increase the risk of developing breast cancer (risk of 38% to 84%) and ovary cancer. Variants detected only in BRCA2 gene sequencing test (point mutations) are identified in >80% of the cases. Microdeletions or microduplications are responsible for around 10% of the cases. BRCA2 gene changes can also indicate predisposition to other types of hereditary tumors including prostate and pancreatic cancers and melanoma.

This MLPA test identifies microdeletions or microduplications in CDH1 gene. The test is indicated for individuals with clinical suspicion of hereditary diffuse gastric cancer (CDH1) and... Read more hereditary breast cancer.Heterozygous pathogenic variants in CDH1 predispose to diffuse gastric cancer. Most of the variants in CDH1 are only detected in CDH1 gene sequencing test (point mutations). Microdeletions or microduplications are responsible for around 4% of the cases.Changes in CDH1 gene also cause predisposition to breast cancer.

This MLPA test identifies microdeletions or microduplications in BRIP1 gene. The test is indicated for individuals with clinical suspicion of hereditary breast cancer.Heterozygous pat... Read morehogenic variants in BRIP1 gene may predispose to the development of breast cancer. Variants detected only in BRIP1 gene sequencing test (point mutations) are more frequently identified in individuals affected by the disease. Microdeletions or microduplications are responsible for a minority of the cases.

This MLPA test identifies microdeletions or microduplications in CDK4 gene. The test is indicated for individuals with clinical suspicion of malignant cutaneous melanoma.Pathogenic va... Read moreriants in hetorozygosis in CDK4 gene, mostly in point mutations detected by gene sequencing, are associated withpredisposition to malignant cutaneous melanoma.

This MLPA test identifies microdeletions or microduplications in CHEK2 gene (Checkpoint Kinase 2). The test is indicated for patients with clinical suspicion of hereditary cancer.Het... Read moreerozygous pathogenic variants in CHEK2 gene may predispose to different types of tumors, notedly breast and prostate cancers.

This MLPA test identifies microdeletions or microduplications in CDKN2A gene. The test is indicated for individuals with clinical suspicion of familial malignant cutaneous melanoma.He... Read moreterozygous pathogenic variants in CDKN2A gene, mostly point mutations, are associated withfamilial forms of malignant cutaneous melanoma. They may also cause increased risk for other types of cancer.

The Mendelics Gold Standard Breast and Ovarian Cancer Panel is an advanced genetic test that uses Next-Generation Sequencing (NGS) to identify pathogenic variants associated with heredi... Read moretary cancer, including: analysis of the 100 most relevant genes for cancer predisposition and includes PRS for female breast cancer, validated in the Brazilian population. The test performs the analysis of promoter regions of all the genes in the panel, identifying mutations that impact genetic regulation, and covers all pathogenic variants in exons and 99.9% of intron variants recorded in ClinVar, with a detailed focus on BRCA1 and BRCA2, including important non-coding regions.

The Mendelics Gold Standard Hereditary Cancer Panel is an advanced genetic test that uses Next-Generation Sequencing (NGS) to identify pathogenic variants associated with hereditary can... Read morecer, including: analysis of the 100 most relevant genes for cancer predisposition and includes PRS for female breast cancer, validated in the Brazilian population. The test performs the analysis of promoter regions of all the genes in the panel, identifying mutations that impact genetic regulation, and covers all pathogenic variants in exons and 99.9% of intron variants recorded in ClinVar, with a detailed focus on BRCA1 and BRCA2, including important non-coding regions.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Read more the most common form of hereditary predisposition to cancer, including breast, ovary, endometrium, intestine/colorectal (polypoid and non-polypoid forms), prostate, gastric, multiple endocrine neoplasia (MEN1), pancreas, Li-Fraumeni Syndrome, among others.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 265 genes relate... Read mored to hereditary cancer, including rarer forms such as hereditary melanoma, pheochromocytoma, Von Hippel Lindau disease, paraganglioma, cylindromatosis, Birt-Hogg-Dubé syndrome, Carney complex, xeroderma pigmentosum, rhabdoid teratoid tumor, hereditary leiomyomatosis syndrome and renal cancer, multiple osteochondromatosis (multiple exostosis), among others.

This MLPA test identifies microdeletions or microduplications in MET gene. This test is indicated for patients with suspected hereditary cancer.Heterozygous pathogenic variants in MET... Read more gene, mostly of point mutation which are detected by gene sequencing, predispose to some hereditary cancer forms, particularly papillary carcinoma of renal cells.

This MLPA test identifies microdeletions or microduplications in MEN1 gene. The test is indicated for patients with clinical suspicion of multiple endocrine neoplasia type 1.Heterozyg... Read moreous pathogenic variants in MEN1 gene are associated with multiple endocrine neoplasia type 1. Most of the variants in MEN1 are only detected in the gene sequencing test (point mutations). Microdeletions or microduplications are responsible for only 1-4% of the cases.

This MLPA test identifies microdeletions or microduplications in MLH1 gene. The test is indicated for individuals with suspected Lynch syndrome and other types of hereditary cancer.He... Read moreterozygous pathogenic variants in MLH1 gene cause Lynch syndrome, also known as hereditary non-polypoid colorectal cancer (HNPCC). Most of the variants in MLH1 are only detected in the gene sequencing test (point mutations). Microdeletions or microduplications are responsible for only 5-10% of the cases.Changes to the MLH1 may also increase the risk for other types of cancer.

This MLPA test identifies microdeletions or microduplications in MSH2 gene. The test is indicated for individuals with suspected Lynch syndrome and other types of hereditary cancer.He... Read moreterozygous pathogenic variants in MSH2 gene cause Lynch syndrome, also known as hereditary non-polypoid colorectal cancer (HNPCC). Most of the variants in MSH2 are only detected in the gene sequencing test (point mutations). Microdeletions or microduplications are responsible for around 20% of the cases.Changes to the MSH2 may also increase the risk for other types of cancer.

This MLPA test identifies microdeletions or microduplications in BAP1 gene and allows the diagnosis of individuals with clinical suspicion of BAP1-associated tumor predisposition syndro... Read moreme.Clinically relevant variants in BAP1 gene cause a tumor predisposition syndrome which increases the risk of some types of tumors, including uveal melanoma, malignant mesotelioma, cutaneous melanomas, basal cell carcinomas and renal cell carcinoma.

This MLPA test identifies microdeletions or microduplications in MSH6 gene. The test is indicated for individuals with suspected Lynch syndrome and other types of hereditary cancer.He... Read moreterozygous pathogenic variants in MSH6 gene cause Lynch syndrome, also known as hereditary non-polypoid colorectal cancer (HNPCC). The vast majority of the variants in MSH6 are only detected in the gene sequencing test (point mutations). Microdeletions or microduplications are responsible for only <5% of the cases.Changes to the MSH6 may also increase the risk for other types of cancer.

This MLPA test identifies microdeletions or microduplications in MUTYH gene. The test is indicated for individuals with clinical suspicion of familial adenomatous polyposis (FAP).The... Read more familial adenomatous polyposis is characterized by the presence of multiple adenomatous polyps in the entire gastrointestinal tract, particularly in the colon. The MUTYH is one of the genes which causes the disease. Variants detected only in MUTYH gene sequencing test (point mutations) are identified in 99% of the individuals affected by the disease. Microdeletions or microduplications in the gene are rare.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the most importa... Read morent genes associated withhereditary susceptibility to Meningioma.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 69 genes which c... Read moreause hereditary cancer, including the main genes which cause hereditary breast and ovary cancers.

This MLPA test identifies microdeletions or microduplications in the PMS2 gene. It is indicated for individuals with suspected Lynch syndrome and other hereditary cancers. Variants dete... Read morected by PMS2 gene sequencing (point mutations) are identified in most cases. In about 20%, microdeletions or microduplications are associated.

This MLPA test identifies microdeletions or microduplications in PALB2 gene. The test is indicated for patients with clinical suspicion of hereditary breast and ovary cancer.Heterozyg... Read moreous pathogenic variants in PALB2 gene are associated with predisposition, particularly to breast cancer.

This MLPA test identifies microdeletions or microduplications in PTEN gene. The test is indicated for individuals with clinical suspicion of PTEN gen-related conditions (Cowden syndrome... Read more, Bannayan-Riley-Ruvalcaba syndrome, autism-microcephaly syndrome, Proteus syndrome, among others)Heterozygous pathogenic variants in PTEN gene may cause a broad clinical spectrum, from predisposition to hereditary cancer to conditions such as developmental delay, autism and macrocephaly. Most of the variants in PTEN gene are only detected in the PTEN gene sequencing test (point mutations). Microdeletions or microduplications in the AR gene are responsible for a up to 10% of the cases.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 40 genes related... Read more to hereditary prostate cancer.

This MLPA test identifies microdeletions or microduplications in RB1 gene. The test allows the diagnosis of patients with suspected hereditary Retinoblastoma.Retinoblastoma is a mali... Read moregnant tumor which develops in the retina, generally before five years old. The gene which causes the disease is RB1, a tumor suppressor gene, which regulates the cell growth.Genetic variants detected only in RB1 gene sequencing test (point mutations) are identified in 80% of the individuals affected by hereditary retinoblastoma. Microdeletions or microduplications (CNV) in the gen are responsible for up to 20% of the cases.

This MLPA test identifies microdeletions or microduplications in RET gene (Ret Proto-oncogene) and allows the diagnosis of individuals with clinical suspicion of hereditary multiple end... Read moreocrine neoplasia type 2 (MEN2), medullary thyroid carcinoma and pheochromocytoma.Variants detected only in RET gene sequencing test (point mutations) are more frequently detected in affected individuals.

This MLPA test identifies microdeletions or microduplications in SDHB gene. The test is indicated for individuals with clinical suspicion of hereditary paraganglioma-pheochromocytoma (P... Read moreGL/PHEO) syndrome and other diseases related to SDHB.Variants in SDHB gene are associated withPGL/PHEO and to the increased predisposition to non-syndromic paraganglioma, Cowden syndrome, Gastrointestinal stromal tumor and other related cancers.

This MLPA test identifies microdeletions or microduplications in TP53 gene. The test is indicated for patients with suspected Li-Fraumeni syndrome or other forms of hereditary cancer.... Read moreTP53 gene is a tumor suppressor gene which regulates the cell growth. Heterozygous pathogenic variants in TP53 gene cause Li-Fraumeni syndrome, with predisposition to a number of types of cancers, particularly adrenocortical carcinoma, breast cancer, central nervous system tumors, osteosarcomas and soft tissue sarcomas.Genetic variants detected only in TP53 gene sequencing test (point mutations) are identified in 90% of the cases. Microdeletions or microduplications (CNV) in the gene are responsible for around 1% of the cases.

This MLPA test identifies microdeletions or microduplications in STK11 gene and allows the diagnosis of individuals with clinical suspicion of Peutz-Jeghers Syndrome (PJS).The Peutz-J... Read moreeghers Syndrome (PJS) is characterized by gastrointestinal polyposis, cutaneous mucosal pigmentation and predisposition to cancer.Pathogenic variants in heterozygosis in STK11 gene cause the syndrome. Variants detected only in STK11 gene sequencing test (point mutations) are identified in 81% of the individuals affected by the syndrome. Microdeletions or microduplications (CNV) in the gene are responsible for 15% of the cases.

This MLPA test identifies microdeletions or microduplications in WT1 gene and allows the diagnosis of individuals with clinical suspicion of Wilms tumor and related diseases, resulting... Read more from variations in the number of copies (CNV) involving this gene.Heterozygous pathogenic variants in WT1 gene occur with an increase risk for Wilms tumor and may further occur with Denys-Drash, Frasier, Meacham syndromes and nephrotic syndrome type 4.

This MLPA test identifies microdeletions or microduplications in region 7p11.23 and allows the diagnosis of individuals with clinical suspicion of Williams syndrome.The Williams syndr... Read moreome is characterized by intellectual disability, characteristic personality, cardiovascular problems, among others. It’s caused by the microdeletion of the long arm of chromosome 7, in region q11.23. The deleted region includes 26 to 28 genes, and the loss of several of these genes contributes to the characteristics of such disease. CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes are among the genes which are normally deleted in individuals with Williams Syndrome.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This MLPA test identifies microdeletions or microduplications in region 4p16 and allows the diagnosis of individuals with clinical suspicion of Wolf-Hirschhorn syndrome.The Wolf-Hirsc... Read morehhorn syndrome is characterized by growth and developmental delay, intellectual disability, seizures and typical facial appearance. It’s caused by the terminal deletion of the short arm of chromosome 4, in region p.16. The deletion size ranges between the affected individuals, being that larger deletions trend to result in intellectual impairment and physical anomalies more severe than that in minor deletions.The typical signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This MLPA test identifies microdeletions or microduplications in region 11p13 and allows the diagnosis of individuals with clinical suspicion of WAGR syndrome.The WAGR syndrome is par... Read moreticularly characterized by increased risk of developing Wilms tumor, aniridia (absence of iris), genitourinary anomalies and intellectual disability.The WAGR syndrome is caused by a deletion in the short arm of chromosome 11 in region p13. The deletion size ranges between the affected individuals and influences the signs an symptoms of WAGR syndrome, which are related to the lost genes. The most commonly deleted genes are PAX6, responsible for the ocular characteristics of the syndrome and WT1, responsible for Wilms tumor.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This MLPA test identifies microdeletions or microduplications in region 17p11 and allows the diagnosis of individuals with clinical suspicion of Smith-Magenis syndrome.The Smith-Magen... Read moreis syndrome is characterized by intellectual disability, distinct facial characteristics, sleep disorders and behavioral problems, among others.Usually, the Smith-Magenis syndrome results from the deletion of a small part of the short arm of chromosome 17 in position p11.2 which comprises multiple genes, including RAI1. The deleted segment generally (~70% of the cases) includes 3.7 megabases (Mb). Occasionally, the deletion is larger or smaller.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This MLPA test identifies microdeletions or microduplications in region 5q35 and allows the diagnosis of individuals with clinical suspicion of Sotos syndrome.The Sotos syndrome is mo... Read morere frequently caused by point mutations in NSD1 gene, located in the long arm of chromosome 5, in region q35, however, in part of the patients it results from the microdeletion of 1.9 Mb, in 5q35 region, comprising NSD1 gene, particularly identified in patients of Japanese descent.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Read more a number of skeletal system diseases, including Imperfect Osteogenesis, Achondroplasia, Acrodysostosis, Blomstrand Syndrome, Caffey Syndrome, Desbuquois Syndrome, Klippel-Feil Syndrome, Meier-Gorlin Syndrome, Osteopetrosis and Stickler Syndrome, among others.

The methylation study of region 11p15 allows the diagnosis of individuals with clinical suspicion of Russel-Silver Syndrome (RSS).The RSS is a genetic disease of intrauterine and pos... Read moret-natal growth restriction, resulting from changes to the regulation of genes that control growth.This test detects the main known cause of RSS: methylation changes to the short arm of chromosome 11 (in 11p15), region which includes H19 and IGF2 genes, this being the cause of 35-50% of the cases.The maternal uniparental disomy of chromosome 7, not investigated in this test, is responsible for other 7-10% of the RSS cases. The disease cause remains unknown in up to 40% of the patients.

This MLPA test identifies microdeletions or microduplications in region 7p21 and allows the diagnosis of individuals with clinical suspicion of Saethre-Chotzen syndrome.The Saethre-Ch... Read moreotzen syndrome is characterized by the early fusion of cranial sutures (craniosynostosis) and other characteristic physical signs. Usually, the Saethre-Chotzen syndrome is caused by point mutations in TWIST1 gene only detectable in the sequencing test. However, in some cases, it can be caused by a microdeletion in the short arm of chromosome 7, in region p21 where TWIST1 gene is located.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This MLPA test identifies microdeletions or microduplications in region 16p13 and allows the diagnosis of individuals with clinical suspicion of Rubinstein-Taybi syndrome (RTS).The RT... Read moreS is characterized by post-natal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and great toes, developmental delay, among others.The RTS results more frequently from mutations in gen CREBBP, however, in some of the individuals it may be caused by a microdeletion in the short arm of chromosome 16, in region p13.3. A number of genes, including CREBBP gene, are absent as a result of such deletion.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Read more different rasopathies, including Noonan syndrome, Cardio-Facio-Cutaneous syndrome and Costello syndrome.

This MLPA test identifies microdeletions or microduplications in region 22q13 and allows the diagnosis of individuals with clinical suspicion Phelan-McDermid syndrome.The Phelan-McDer... Read moremid syndrome is characterized by developmental delay, hypotonia, intellectual disability, among others.The syndrome is caused by a terminal deletion of the long arm of chromosome 22 in region q13.3. The signs and symptoms of the syndrome are probably related to the loss of multiple genes in this region. The deletion size ranges between the affected individuals. The deletion of SHANK3 gene is most likely the cause of the main neurological characteristics associated with the syndrome. The deletion of other genes may cause more complex phenotypes in patients holding larger deletions.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This MLPA test identifies microdeletions or microduplications in region 17p13 and allows the diagnosis of individuals with clinical suspicion Miller-Dieker syndrome.The Miller-Dieker... Read more syndrome is characterized by an abnormal brain development standard known as lissencephaly, developmental delay, seizures, among other symptoms.The syndrome is caused by the loss of the distal region of the short arm of chromosome 17, in region 7p13. The size of the deletion ranges between the affected individuals. The signs and symptoms of the Miller-Dieker syndrome are related to the loss of multiple genes in this region, particularly PAFAH1B1 and YWHAE genes.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This test performs the complete sequencing (exons and flanking intronic regions) and evaluation of the number of copies (CNV) through next generation sequencing (NGS) of FBN1 gene. The... Read more test allows the diagnosis of patients with suspected Marfan syndrome.Marfan syndrome is a connective tissue disease which causes eye, cardiovascular and skeletal changens. The gene which causes the syndrome is FBN1. Variants detected only in FBN1 gene sequencing test (point mutations) are identified in 90-93% of the affected individuals. Microdeletions and microduplications partially of fully comprising the gene cause the rest of the disease cases.

This MLPA test identifies microdeletions or microduplications in region 8q24 and allows the diagnosis of individuals with clinical suspicion of langer-Giedion syndrome, also known as tr... Read moreichorhinophalangeal syndrome type 2 (STRF II).STRF II is a rare genetic syndrome associated to distinct facial characteristics and bone abnormalities. It is caused by deletion in the long arm of chromosome 8 (8q24). The signs and symptoms of STRF II are related to the loss of multiple genes in chromosome 8, particularly TRPS1, EXT1 and RAD21 genes.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This test uses the MLPA (Multiplex Ligation-dependent Probe Amplification) technique to detect recurrent microdeletions and microduplications in genomic DNA, focusing on the research of... Read more the following regions: 1p36, 4p16.3, 5p, 5q35 (including the NSD1 gene), 7p21 (including the TWIST1 gene), 7q11.23, 8q24.11-q24.13 (including the TRPS1 and EXT1 genes), 11p13, 15q11.2-q13 (including the critical regions for AS/PW), 16p13.3 (including the CREBBP gene), 17p13.3 (including the PAFAH1B1/LIS1 gene), 17p11.2 (including the RAI1 gene), 20p12 (including the JAG1 gene), 22q11.2, 22q13 (including the SHANK3 gene). It is important to highlight that this test does not detect: point mutations or insertion/deletion mutations involving a small number of nucleotides, balanced structural rearrangements such as inversions or translocations, or copy number variations that are entirely or partially outside the region covered by the MLPA probes. Additionally, this test is focused on investigating REGIONS associated with deletion and duplication syndromes and does NOT investigate copy number variation (CNV) of SPECIFIC GENES. For this targeted analysis, a different test should be performed (availability to be checked). Analyzed syndromes: 1p36 deletion syndrome, Wolf-Hirschhorn syndrome, Cri-du-Chat syndrome, 5q35 microdeletion syndrome, 5q35 microduplication syndrome, 7p21 microdeletion syndrome, 7q11.23 deletion syndrome (Williams-Beuren syndrome), 7q11.23 duplication syndrome, 8q24.1 microdeletion syndrome (Trichorhinophalangeal syndrome type 2), 8q24 microduplication syndrome, 11p13 microdeletion syndrome (WAGR syndrome), 15q11.2-q13 microdeletion syndrome, 15q11.2-q13 microduplication syndrome, 16p13.3 microdeletion syndrome, 16p13.3 microduplication syndrome, 17p13.3 microdeletion syndrome (Miller-Dieker syndrome), 17p13.3 microduplication syndrome, 17p11.2 microdeletion syndrome (Smith-Magenis syndrome), 17p11.2 microduplication syndrome (Potocki-Lupski syndrome), 20p12 microdeletion syndrome, 22q11.2 microdeletion syndrome, 22q11.2 microduplication syndrome, 22q13 microdeletion syndrome, 22q13 microduplication syndrome.

This test evaluates more than 500 genes that can cause rare, but treatable early-onset diseases. This panel includes analysis of rare diseases from various classes such as Inborn Errors... Read more of Metabolism, Neurological, Immunological, Hematological, Endocrine, Kidney, Hepatic, Gastrointestinal and Skeletal Diseases. The panel is recommended for preventive screening of rare diseases in asymptomatic babies.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Read more to different forms of Ehlers-Danlos and cutis laxa syndromes.

This test conducts the sequencing and evaluation of the number of copies (CNV) of CFTR gene through the NGS technique. The test allows the diagnosis of patients with suspected cystic fi... Read morebrosis.The cystic fibrosis (CF) is a disease characterized by progressive pulmonary change, exocrine pancreatic dysfunction and high electrolyte concentration in sweat.Pathogenic variants in both copies of CFTR gene cause the disease. More than 1,000 variants in CFTR gene which cause the disease have already been identified, deltaF508 being the most common mutation, which leads to the deletion of an amino acid in position 508 of the CFTR protein.Variants detected only in CFTR gene sequencing test (point mutations) are identified in 98% of the individuals affected by the disease. Microdeletions and microduplications in CFTR comprising one or more exons of the gene cause the rest of the cases.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 4 genes related... Read more to syndromic craniosynostosis, including Apert, Jackson-Weiss, Pfeiffer, Saethre-Chotzen and Crouzon Syndromes.

This MLPA test identifies microdeletions or microduplications in region 5p15 and allows the diagnosis of patients with clinical suspicion of Cri-du-Chat syndrome.The Cri du Chat syndr... Read moreome is a microdeletion syndrome characterized by intellectual disability, developmental delay, typical facial changes, and presence of a characteristic crying in the early childhood which reminds a cat meow.The disease cause is the deletion of the short arm of chromosome 5 in region p15, detectable in the MLPA test.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Read more the main genetic syndromes which phenotypes can be clinically recognizable. This test provides the clinical geneticist with a tool for the rapid molecular confirmation of common clinical diagnoses.The panel includes genes related to Adams-Oliver, Albinism, X-linked alpha-thalassemia/DI, Aniridia, Distal Arthrogryposis, Bardet-Biedl, CHARGE, Cockayne, Coffin-siris, Progeria and Progeroid Syndromes, Pseudohypoparathyroidism (Albright hereditary osteodystrophy), 3M Syndrome, Acrocallosal Syndrome, Aarskog Syndrome, Alagille Syndrome, Alstrom Syndrome, Bannayan-Riley-Ruvalcaba-Smith Syndrome, Baraitser-Winter Syndrome, Blepharophimosis Syndrome, Ptosis and Inverse Epicanthus (BPES), Bloom Syndrome, Bohring-Opitz Syndrome, Cantu Syndrome, Cohen Syndrome, Cornelia de Lange Syndrome, EEC Syndrome, Floating-Harbor Syndrome, Freeman-Sheldon Syndrome, Gorlin Syndrome, Holt Oram Syndrome, Johanson-Blizzard Syndrome, Kabuki Syndrome, Kleefstra Syndrome, Loyes-Dietz Syndrome, Lujan-Fryns Syndrome, Marfan Syndrome and other conditions associated to FBN1 gene, Marshall-Smith Syndrome, Miller Syndrome, Mowat-Wilson Syndrome, Myhre Syndrome, Nager Syndrome, Nicolaides-Baraitser Syndrome, Noonan Syndrome and other rasopathies, Opitz C Syndrome (Optiz Trigonocephaly), Opitz G/BBB Syndrome, Pitt-Hopkins Syndrome, Ritscher-Schinzel Syndrome (3C), Robinow Syndrome, Rothmund-Thomson Syndrome, Rubinstein-Taybi Syndrome, Say-Barber-Biesecker-Young-Simpson Syndrome (SBBYSS), Schinzel-Giedion Syndrome, Schwarz-Jampel Syndrome, Seckel Syndrome, Sheldon-Hall Syndrome, Shprintzen-Goldberg Syndrome, Simpson-Golabi Syndrome, Smith-Lemli-Opitz Syndrome, Sotos Syndrome, Townes-Brockes Syndrome, Treacher-Collins Syndrome, Nail-patella Syndrome, Van der Woude Syndrome, Waardenburg Syndrome, Weaver Syndrome, Wiedemann-Steiner Syndrome, Multiple pterygium syndrome, Duane-radial ray syndrome (Okihiro), FG Syndrome (Opitz-Kaveggia), KBG Syndrome, TAR Syndrome and Trichorhinophalangeal Syndrome.

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of CHD7 gene. The t... Read moreest allows the molecular diagnosis of patients with suspected CHARGE syndrome. Variants detected only in CHD7 gene sequencing test (point mutations) are identified in 90% of the affected individuals. Microdeletions or microduplications in the gene are rare.

The Recessive Disease Mutation Carrier Screening identifies previously described and/or admittedly pathogenic mutations in genes related to recessive autosomal diseases. The test must b... Read moree preferably used by a clinical geneticist as a tool for the genetic counseling of couples at increased risk for this group of diseases.All the human genes are presented in pairs, because we inherit a maternal and a paternal copy. A part of the genetic diseases presents recessive autosomal inheritance, i.e., for the disease to manifest it"s necessary that the two gene copies (maternal and paternal) are changed. People who have only one copy of a mutated gene (maternal or paternal copy) will be carriers of the mutation, but will not manifest the disease.Genetic disease with recessive autosomal inheritance are more frequently observed in children of consanguineous couples (with a degree of relatedness), of certain ethnic groups with increased risk for specific genetic conditions (such as, for example, the Ashkenazi Jews), or people with family history of recessive autosomal genetic disease such as cystic fibrosis and sickle-cell anemia.This test allows the evaluation of any variant present in the coding region (exons and flanking introns) of the panel.

The methylation study of region 11p15 allows the diagnosis of individuals with clinical suspicion of Beckwith-Wiedemann syndrome, being the methylation changes the main mechanism associ... Read moreated to this syndrome.Around 50% of the cases result from methylation changes in the short arm of chromosome 11 (region 11p15), which includes CDKN1C, H19, IGF2, and KCNQ1OT1 genes. The paternal uniparental disomy of chromosome 11 is responsible for 10% of the disease cases.In case of negative result in the methylation test, the sequencing of CDKN1C gene is recommended, considering that approximately 5% of the cases of Beckwith-Wiedemann syndrome without family history, are caused by point mutations in this gene.

The methylation study of region 15q11.2 is recommended for individuals with clinical suspicion of Prader-Willi (PWS) and Angelman (AS) syndromes.The Prader-Willi syndrome (PWS) is cha... Read moreracterized by severe hypotonia during the first years of a child"s life, difficult feeding and developmental delay. Later, these individuals in general develop compulsive behavior concerning food.The Angelman syndrome (AS) is characterized by neuropsychomotor development delay, with significant impact to the language, intellectual disability, ataxia, seizures, stereotyped movements, among others.The two conditions are caused by changes to the long arm of chromosome 15 (in 15q11.2). Genes subject to a mechanism called genomic imprinting are located in this region.The methylation test is able to detect, respectively, 99% and 85%, of the Prader-Willy syndrome (PWS) and Angelman syndrome (AS) cases.Around 11% of the AS cases are caused by variants of UBE3A gene detected only by sequencing tests. For individuals with suspected Angelman syndrome, in case of negative result in the methylation test, the conduction of gene UBE3A sequencing is recommended.

This MLPA test identifies microdeletions or microduplications in region 1p36 and allows the diagnosis of individuals with clinical suspicion of 1p36 deletion.The 1p36 monosomy is cons... Read moreidered as being one of the most common chromosomal terminal deletions in the human species and may lead to developmental delay, intellectual disability, characteristic facial signs, among others.This test is indicated for investigating REGIONS associated with microdeletion and microduplication syndromes and does NOT investigate copy number variation (CNV) of specific GENES. For this targeted analysis, another test must be performed (check availability).