Mitochondrial Diseases Panel (Nuclear and Mitochondrial DNA)

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Mitochondrial Diseases Panel (Nuclear and Mitochondrial DNA)

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 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.

Genes Analisados:

AARS2 ABAT ABCB7 ACACA ACAD9 ACADM ACADVL ACAT1 ACO2 ADAR AFG3L2 AGK AIFM1 AK2 ALDH3A2 AMT APTX ATP5F1A ATP5F1D ATP5F1E ATP7A ATP7B ATPAF2 AUH BAG3 BCS1L BOLA3 BTD C19orf12 C1QBP CA5A CARS2 CEP89 CHAT CHCHD10 CHKB CLPB CLPP COA3 COA5 COA6 COA7 COA8 COASY COQ2 COQ4 COQ5 COQ6 COQ7 COQ8A COQ8B COQ9 COX10 COX14 COX15 COX20 COX4I1 COX4I2 COX5A COX6B1 COX7B COX8A CPS1 CPT1A CYC1 CYCS D2HGDH DARS2 DDC DES DGUOK DLAT DLD DNA2 DNAJC19 DNM1L EARS2 ECHS1 ELAC2 ETFA ETFB ETFDH ETHE1 FARS2 FASTKD2 FBXL4 FDX2 FDXR FH FLAD1 FOXRED1 GAMT GARS1 GATB GATC GATM GCDH GDAP1 GFER GFM1 GFM2 GLDC GLRX5 GTPBP3 GYG2 HADH HADHA HADHB HARS2 HCCS HIBCH HLCS HMGCL HMGCS2 HSD17B10 HSPD1 HTRA2 IARS1 IARS2 IBA57 IDH2 IDH3B IFIH1 ISCA1 ISCA2 ISCU KARS1 L2HGDH LAMP2 LARS2 LIAS LIPT1 LIPT2 LMBRD1 LONP1 LRPPRC LYRM4 LYRM7 MARS2 MDH2 MECR MFF MFN2 MGME1 MICOS13 MICU1 MIPEP MOCS1 MPC1 MPV17 MRM2 MRPL12 MRPL3 MRPL44 MRPS14 MRPS16 MRPS2 MRPS22 MRPS23 MRPS34 MRPS7 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TA MT-TC MT-TD MT-TE MT-TF MT-TG MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TM MT-TN MT-TP MT-TQ MT-TR MT-TS1 MT-TS2 MT-TV MT-TW MT-TY MTFMT MTHFD1 MTO1 MTPAP MTRFR NADK2 NARS2 NAXE NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFS1 NFU1 NGLY1 NNT NR2F1 NSUN3 NUBPL NUP62 OGDH OPA1 OPA3 OTC OXCT1 PANK2 PARS2 PC PCCA PCCB PCK2 PDHA1 PDHB PDHX PDK3 PDP1 PDSS1 PDSS2 PET100 PET117 PINK1 PITRM1 PMPCA PMPCB PNKD PNPLA8 PNPT1 POLG POLG2 POP1 PPA2 PPOX PSAP PTCD3 PUS1 QRSL1 RANBP2 RARS1 RARS2 REEP1 RMND1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RRM2B RTN4IP1 SACS SAMHD1 SARS2 SCN1A SCO1 SCO2 SDHA SDHAF1 SDHB SDHC SDHD SERAC1 SFXN4 SLC19A2 SLC19A3 SLC22A5 SLC25A1 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A21 SLC25A22 SLC25A26 SLC25A3 SLC25A32 SLC25A38 SLC25A4 SLC25A42 SLC25A46 SLC39A8 SLC52A2 SLC52A3 SLC6A8 SPAST SPG7 STAT2 STXBP1 SUCLA2 SUCLG1 SUGCT SUOX SURF1 TACO1 TAFAZZIN TANGO2 TARS2 TFAM TIMM22 TIMM50 TIMM8A TIMMDC1 TK2 TMEM126A TMEM126B TMEM70 TOP3A TPK1 TREX1 TRIT1 TRMT10C TRMT5 TRMU TRNT1 TSFM TTC19 TUFM TWNK TXN2 TYMP UQCC2 UQCC3 UQCRB UQCRC2 UQCRQ VARS2 WARS2 WDR45 WFS1 XPNPEP3 YARS2 YME1L1

Principais Doenças Analisadas Nesse Exame:

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

Outros Nomes Para Esse Exame:

Mitochondrial Diseases NGS Panel, Genetic panel of mitochondrial diseases, Genetic analysis of mitochondrial genes

Especialidades:

Medical Genetics

Neurology

Gastroenterology

Fale Conosco

Tempo estimado de entrega do resultado:

28 dias

Como funciona?

SOLICITAÇÃO

Solicite o kit de coleta pelo formulário de contato ou pelo e-mail contato@mendelics.com

COLETA

Realize a coleta em casa (Swab bucal) ou em um laboratório (Sangue em EDTA)

ENVIO

Envie o material coletado para nosso laboratório

RESULTADO

Acompanhe o andamento em tempo real e acesse o resultado do exame pela internet

How does it work?

REQUEST

Request the collection kit by using the contact form or sent an e-mail to contato@mendelics.com

COLLECTION

Collect saliva at home (Oral swab) or blood in a laboratory (EDTA tube)

DELIVERY

Send the collected sample to our laboratory

RESULT

Check the progress in real time and access the tests results online

¿Como funciona?

SOLICITUD

Solicite el kit de toma de muestra por medio del formulario o por el emailcontato@mendelics.com

TOMA DE MUESTRA

Realice la toma de muestra en casa (swab bucal) o en el laboratorio.

ENVIO

Envíe el material para nuestro laboratorio.

RESULTADO

Acompaña el proceso en tiempo real y acceda al resultado por internet

Como Solicitar o Kit?

Tenha o pedido médico em mãos;
Entre em contato conosco e informe o exame a ser realizado;
Escolha a forma de pagamento;
Receba o Kit de coleta em casa;

Solicitar Kit de Coleta

How to Request the Kit?

With a medical prescription;
Contact us and inform the exam to be conducted;
Choose payment option;
Receive the collection Kit at home.

Request Collection Kit

¿Cómo solicitar el Kit?

Tenga a la mano la orden médica;
Entre en contacto con nosotros e informe el examen a ser realizado;
Escoja la forma de pago;
Reciba el kit de toma de muestra en casa;

Solicitar el kit de toma de muestra

Coleta Presencial

Pacientes que se encontram em São Paulo também têm a opção de realizar o exame no próprio laboratório da Mendelics.

Collection at the lab

Patients in São Paulo also have the option to perform the test at Mendelics.

Toma de Muestra Presencial

Los pacientes que se encuentran en São Paulo también tienen la opción de realizar el examen en el laboratorio Mendelics.

Tem alguma dúvida?

Encontre as respostas para as dúvidas mais frequentes que temos para te ajudar a realizar o seu exame.

Saiba Mais

Do you have any doubts?

Find answers for frequently asked questions we selected to assist you.

Learn more

¿Tiene alguna duda?

Encuentre las respuestas de las dudas más frecuentes que tenemos para ayudarle a realizar su examen.

Sepa más

Entre em contato conosco

Contato

Contact us

Contact

Hable con nosotros

Contacto

Dirección

Teléfono

Mendelics es pionero y líder en secuenciación de nueva generación (NGS) en América Latina.

Es el único laboratorio de base genómica que obtiene acreditaciones por CAP (American College of Pathologists – # 8671464), por la Coordinación General de Acreditación de Inmetro de acuerdo con ABNT NBR ISO 15189, bajo el número CLC 0007 y por PALC (Programa de Acreditación para Laboratorios Clínicos – # 32290508).

Responsable técnico: Dr. Fernando Kok | CRM-SP 32.255

Address

Phones

Mendelics is a pioneer and leader in New Generation Sequencing (NGS) in Latin America.

It is the only genomically based laboratory to obtain accreditations by CAP (American College of Pathologists – # 8671464), by Inmetro’s General Coordination for Accreditation in accordance with ABNT NBR ISO 15189, under the number CLC 0007 and by PALC (Program for Accreditation of Clinical Laboratories – # 32290508).

Technical responsible: Dr. Fernando Kok | CRM-SP 32.255

Mitochondrial Diseases Panel (Nuclear and Mitochondrial DNA)

Mitochondrial Diseases Panel (Nuclear and Mitochondrial DNA)