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Results: 1 to 20 of 155

Tests names and labsConditionsGenes, analytes, and microbesMethods

Charcot Marie Tooth Type 2I/2J/1B

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MPZ Gene CMT1B NGS Genetic DNA Test

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

MPZ Gene CMT2I NGS Genetic DNA Test

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

MPZ Gene CMT2J NGS Genetic DNA Test

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

MPZ Gene CMT4E NGS Genetic DNA Test

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

MPZ Gene Dejerine-Sottas disease NGS Genetic DNA Test

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

MPZ Gene DI-CMTD 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 disease (PMP22, MPZ, GJB1 genes)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
13
  • D Deletion/duplication analysis

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

Myelin Protein Zero (MPZ) gene sequencing test

Neurogenetics Department Cyprus Institute of Neurology and Genetics
Cyprus
11
  • 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

MPZ - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • 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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

Results: 1 to 20 of 155

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.