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Results: 1 to 20 of 87

Tests names and labsConditionsGenes, analytes, and microbesMethods

NDRG1 Gene CMT4D NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

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

Motor and Sensory Neuropathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
287
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Genomic Unity® Hearing Loss Disorders Analysis

Variantyx, Inc.
United States
1318
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

AudioloGene Hearing Loss Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1200
  • C Sequence analysis of the entire coding region

NDRG1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
405219
  • D Deletion/duplication analysis

Charcot-Marie-Tooth disease Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
142
  • D Deletion/duplication analysis
  • 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
142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth disease NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
142
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth disease, type 4D, 601455, Autosomal recessive; CMT4D (Charcot-Marie-Tooth disease type 4D) (NDRG1 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

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • 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

Results: 1 to 20 of 87

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.