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Results: 21 to 40 of 73

Tests names and labsConditionsGenes, analytes, and microbesMethods

Distal hereditary motor neuropathy and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
294481
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
223106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

OtoGenome Test for Hearing Loss (110 Genes)

Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine
United States
23109
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneSeq® Neuro: Charcot-Marie-Tooth Disease Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
198
  • C Sequence analysis of the entire coding region

Hereditary ataxias panel_v.2.0

CGC Genetics Unilabs
Portugal
1427
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel 

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

Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis)

CGC Genetics Unilabs
Portugal
1307
  • C Sequence analysis of the entire coding region

Síndrome de Usher (WES based NGS panel of 13 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
113
  • C Sequence analysis of the entire coding region

Usher syndrome type 3B (sequence analysis of HARS gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Neuropathy Panel

Mendelics
Brazil
1104
  • C Sequence analysis of the entire coding region

USHER SYNDROME EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
125
  • E Sequence analysis of select exons

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

SPINAL MUSCULAR ATROPHY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
146
  • E Sequence analysis of select exons

CHARCOT-MARIE-TOOTH EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1151
  • E Sequence analysis of select exons

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

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

Inherited Loss of Hearing Panel

Dhiti Omics Technologies Private Ltd
India
8179
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 73

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.