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Results: 1 to 20 of 284

Tests names and labsConditionsGenes, analytes, and microbesMethods

Distal Weakness Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peripheral Neuropathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sensory Neuropathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2525
  • 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

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • 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 Hereditary Sensory and Autonomic Neuropathy Panel

Invitae
United States
2515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

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

Hereditary Sensory and Autonomic Neuropathy Panel

PreventionGenetics, part of Exact Sciences
United States
2020
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuromuscular Disorders Panel 

CGC Genetics Unilabs
Portugal
17367
  • C Sequence analysis of the entire coding region

Neuropathy Panel

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

HEREDITARY SENSORY-AUTONOMIC NEUROPATHY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
130
  • E Sequence analysis of select exons

HEREDITARY ATAXIAS EXOME PANEL

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

CHARCOT-MARIE-TOOTH EXOME PANEL

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

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mosaic Carrier Test    

GeneDx
United States
11040
  • T Targeted variant analysis

Two Known Familial Variants in a Nuclear Gene

GeneDx
United States
11043
  • T Targeted variant analysis

Results: 1 to 20 of 284

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.