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Results: 1 to 20 of 52

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Nuclear Mitochondrial Disorders Panel

Invitae
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pure Hereditary Spastic Paraplegia Panel

PreventionGenetics, Part of Exact Sciences
United States
3136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Hereditary motor and sensory neuropathy VIA, 601152, Autosomal dominant; HMSN6A (Hereditary motor and sensory neuropathy type 6) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Hereditary motor and sensory neuropathy VIA, 601152, Autosomal dominant; HMSN6A (Hereditary motor and sensory neuropathy type 6) (MFN2 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

Generalized, Partial and Atypical Lipodystrophy Panel

PreventionGenetics, Part of Exact Sciences
United States
5729
  • 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

Invitae Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • 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

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

Invitae Comprehensive Neuropathies Panel

Invitae
United States
20196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Invitae Charcot-Marie Tooth Disease Comprehensive Panel

Invitae
United States
12352
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Mitochondrial DNA depletion syndrome panel. 25-gene NGS panel.

Genologica Medica
Spain
5025
  • C Sequence analysis of the entire coding region

Optic atrophy. NGS panel of 13 genes.

Genologica Medica
Spain
2913
  • C Sequence analysis of the entire coding region

Optic atrophy panel. NGS panel of 19 genes.

Genologica Medica
Spain
3819
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 52

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.