MT-ATP6

OMIMHGNC

Synonym(s): ATP6, ATPase-6, Su6m, MTATP6, RP

Locus: mitochondria

Protein: ATP synthase subunit a

 

Disorders

Tests

Test Type
Molecular (28)
Multi-Gene Panel (17)
Multi-Method Panel (8)
Test Method
Del/Dup (CNV) (6)
Mutation Scanning of Select Exons (2)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (14)
Sequencing, Next Gen (14)
Prenatal/Carrier
Prenatal (6)
Carrier (5)
Lab Location
Portugal(4)
Estonia(1)
Korea, Republic of(1)
USA(4)
Spain(5)
Turkey(2)
Germany(10)
Austria(1)
 
MT-related leigh disease test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
mtDNA ATPase Subunits Seq
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
Detection of mutations 8993T>G and 8993T>C in the mitochondrial gene MTATP6
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Leigh Syndrome, Mutation (T8993G) MTATP6 Gene
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Mitochondrial Type NARP Encephalopathy , Mutation T8993G
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 10-12 weeks
price: contact lab
Mitochondrial Disorders (mtDNA) Sequencing
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Mitochondrial Disorders Panel (mtDNA Sequencing and Deletion/Duplication, 121 Nuclear Genes Sequencing, 119 Nuclear Genes Deletion/Duplication)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Neuropathy, ataxia, and retinitis pigmentosa (NARP, sequence analysis of MTATP6 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
NARP Mutation Analysis
method(s): ◦ Mutation Scanning of Select Exons 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Mitochondrial Disorders
method(s): ◦ Sequencing, Capillary (Sanger) 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
Epilepsy Hereditary Panel
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 3-5 weeks
price: contact lab
Leigh Syndrome (nuclear DNA mutation) Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Mitochondrial Cardiomyopathy Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Mitochondrial Disorders Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Metabolic Epilepsy Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
mtDNA encoded Mitochondriopathies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Mitochondrial Disorders, Panel Massive Sequencing 37 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Leigh syndrome (m.8993T>G and m.8993T>C mutation on MT-ATP6 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Mitochondrial complex V (ATP synthase) deficiency (sequence analysis of MTATP6 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: contact lab
price: $1,802.00
Hereditary Spastic Paraplegia
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Asper Biogene LLC - Tartu, Estonia
TAT: 2-3 weeks
price: contact lab
Leigh/NARP Syndrome - Neuropathy, ataxia and retinitis
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
Leber Optic Atrophy (Lebersche Optikusatrophie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 2-3 weeks
price: contact lab
Mitochondrial complex V (ATP synthase) deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
Leber optic atrophy
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-5 weeks
price: contact lab
Mitochondrial Genome NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 weeks
price: contact lab
CentoMito™ Genome
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Leber optic atrophy panel
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
Mental Retardation - different panels
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Cologne University, Institute of Human Genetics - Cologne, Germany