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 ACAD9 AIFM1 ATP5F1A ATP5F1E ATPAF2 BCS1L BOLA3 C1QBP CARS2 CHCHD10 COA8 COX10 COX14 COX15 COX20 COX6B1 CYC1 DARS2 DDC DGUOK DNA2 EARS2 ECHS1 ELAC2 FARS2 FASTKD2 FBXL4 FDX2 FDXR FOXRED1 GFER GFM1 GTPBP3 HADHA HADHB IBA57 ISCA1 ISCA2 ISCU LIAS LIPT2 LRPPRC LYRM4 LYRM7 MARS2 MGME1 MICOS13 MPC1 MPV17 MRPL3 MRPL44 MRPS16 MRPS2 MRPS22 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 MTO1 MTRFR NARS2 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NUBPL OPA1 PCK2 PET100 PNPLA8 PNPT1 POLG POLG2 PUS1 RMND1 RNASEH1 RRM2B SCO1 SDHA SDHAF1 SDHD SFXN4 SLC25A26 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SUOX SURF1 TACO1 TANGO2 TARS2 TIMMDC1 TK2 TMEM126B TMEM70 TRIT1 TRMT10C TRMT5 TSFM TTC19 TUFM TWNK TXN2 TYMP UQCC2 UQCC3 UQCRB UQCRC2 UQCRQ VARS2 WARS2 YARS2

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)