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Results: 1 to 20 of 49

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

HSPB8 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth disease, axonal, type 2L, 608673, Autosomal dominant; CMT2L (Autosomal dominant Charcot-Marie-Tooth disease type 2L) (HSPB8 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

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
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

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
224202
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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 Hereditary Motor Neuropathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6026
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

Labcorp Genetics (formerly Invitae) LabCorp
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 (CMT) - Comprehensive Panel

PreventionGenetics, part of Exact Sciences
United States
9183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Charcot-Marie Tooth Disease Comprehensive Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
12352
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Heat Shock 22 kDa Protein-Related Disorders via the HSPB8 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

HSPB8

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Predominantly distal muscular atrophy

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

Results: 1 to 20 of 49

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.