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... Ver maishhorn 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 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... Ver maisome 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.

“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... Ver maise, 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.

“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... Ver maispy 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 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... Ver maisticularly 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 MLPA test identifies microdeletions or microduplications in region 22q11.2 and allows the diagnosis of patients with clinical suspicion of velocardiofacial and DiGeorge syndromes (... Ver mais22q11.2 - 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 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... Ver maise 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 TSC1 (Tuberous S... Ver maisclerosis type 1) and TSC2 (Tuberous Sclerosis type 2) genes.

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... Ver maisre 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 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... Ver maisis 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 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... Ver mais 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.

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... Ver maisotzen 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.

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... Ver maist-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 16p13 and allows the diagnosis of individuals with clinical suspicion of Rubinstein-Taybi syndrome (RTS). The RT... Ver maisS 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 MLPA test identifies microdeletions or microduplications in region 22q13 and allows the diagnosis of individuals with clinical suspicion Phelan-McDermid syndrome. The Phelan-McDer... Ver maismid 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 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... Ver mais 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 genes related to... Ver mais different rasopathies, including Noonan syndrome, Cardio-Facio-Cutaneous syndrome and Costello 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... Ver maisatosis type 1), NF2 (Neurofibromatosis type 2) and SPRED1 (Legius Syndrome) genes.

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... Ver mais 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 MLPA test identifies microdeletions or microduplications in region 17p13 and allows the diagnosis of individuals with clinical suspicion Miller-Dieker syndrome. The Miller-Dieker... Ver mais 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 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... Ver maisted 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 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... Ver maisichorhinophalangeal 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 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... Ver mais 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.

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... Ver maisdrome. 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... Ver mais to different forms of Ehlers-Danlos and cutis laxa syndromes.

Painel de Distúrbios do Movimento

This test evaluates more than 340 genes that can cause rare, but treatable early-onset diseases. This panel includes analysis of rare diseases from various classes such as Inborn Errors... Ver mais 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 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... Ver maisbrosis. 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 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... Ver maisome 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.

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... Ver maisies (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 4 genes related... Ver mais to syndromic craniosynostosis, including Apert, Jackson-Weiss, Pfeiffer, Saethre-Chotzen and Crouzon Syndromes.

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... Ver mais 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.

The Recessive Disease Mutation Carrier Screening identifies previously described and/or admittedly pathogenic mutations in 212 genes related to recessive autosomal diseases. The test mu... Ver maisst be 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.

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... Ver maisest 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 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... Ver maisated 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.

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... Ver mais previously associated to the Autism Spectrum Disorder (ASD).

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... Ver maisracterized 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.

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... Ver maisions (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 JAG1 gene and allows the diagnosis of individuals with clinical suspicious of Alagille syndrome. The Alagille syndrome... Ver mais 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 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... Ver maisidered 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.