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Results: 1 to 20 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

Epilepsy Panel

Baylor Genetics
United States
1397
  • C Sequence analysis of the entire coding region

ATXN1 Gene Spinocerebellar ataxia type 1, autosomal dominant NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

LYRM4 Gene Combined oxidative phosphorylation deficiency type 19 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis

Variantyx, Inc.
United States
1335
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Nuclear Mitochondrial Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1221
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Combined mtDNA+Nuclear Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
12221
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • E Sequence analysis of select exons

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Invitae Nuclear Mitochondrial Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Pyruvate Metabolism and Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mitochondrial Disorders Panel (Nuclear Genes Only)

PreventionGenetics, part of Exact Sciences
United States
292253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Combined oxidative phosphorylation deficiency 19, 615595, Autosomal recessive; COXPD19 (Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency) (LYRM4 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Combined oxidative phosphorylation deficiency 19, 615595, Autosomal recessive; COXPD19 (Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency) (LYRM4 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

WES mitochondrial disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1369
  • E Sequence analysis of select exons

Combined Mito Genome Plus Mito Focused Nuclear Gene Panel

GeneDx
United States
1189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Encoded Mitochondrial Disorders Panel 

CGC Genetics Unilabs
Portugal
1306
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Mitochondrial Diseases Panel (Nuclear and Mitochondrial DNA)

Mendelics
Brazil
1169
  • C Sequence analysis of the entire coding region

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.