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Results: 1 to 20 of 208

Tests names and labsConditionsGenes, analytes, and microbesMethods

MT-RNR1 Gene Deafness, nonsyndromic, sensorineural, mitochondrial NGS Genetic DNA Test

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

Medium-chain acyl-CoA dehydrogenase deficiency (ACADM gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • T Targeted variant analysis

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

CLCN4 Gene Raynaud-Claes syndrome NGS Genetic DNA Test

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

ACADM Gene Acyl-CoA medium-chain dehydrogenase deficiency NGS Genetic DNA Test

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

Rhabdo/Metabolic Myopathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
283
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, Full Gene Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • C Sequence analysis of the entire coding region

Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease

Health in Code
Spain
153
  • C Sequence analysis of the entire coding region

Inherited Cardiovascular Diseases and Sudden Death Panel

Health in Code
Spain
1213
  • C Sequence analysis of the entire coding region

Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
11
  • T Targeted variant analysis

Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD)

Revvity Omics Revvity
United States
11
  • T Targeted variant analysis

Elevated Levels of C6, C8 and C10 Acylcarnitine via the ACADM Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

MVL Vision Panel

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

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ACADM - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening Ashkenazi Jewish Panel

Ambry Genetics
United States
5147
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 208

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.