U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...
See more states

Other countries

Results: 1 to 20 of 54

Tests names and labsConditionsGenes, analytes, and microbesMethods

Charcot Marie Tooth Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
4634
  • D Deletion/duplication analysis
  • 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

GARS1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth disease Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
5043
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth disease NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
5043
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth disease Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
5043
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Atrial fibrillation NGS test

HNL Genomics Connective Tissue Gene Tests
United States
2219
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Atrial fibrillation Comprehensive test

HNL Genomics Connective Tissue Gene Tests
United States
2219
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Atrial fibrillation Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
2219
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Neuropathy Panel

PreventionGenetics, part of Exact Sciences
United States
8271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth - Axonal Neuropathy Panel

PreventionGenetics, part of Exact Sciences
United States
4637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth - Comprehensive Panel

PreventionGenetics, part of Exact Sciences
United States
5344
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal Hereditary Motor Neuropathy Panel

PreventionGenetics, part of Exact Sciences
United States
3022
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Glycyl tRNA Synthetase-Related Disorders via the GARS1/GARS Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Predominantly distal muscular atrophy

Genologica Medica
Spain
4318
  • C Sequence analysis of the entire coding region

Spinal muscular atrophy panel. 30-gene NGS panel.

Genologica Medica
Spain
6530
  • 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 54

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.