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Results: 1 to 20 of 87

Tests names and labsConditionsGenes, analytes, and microbesMethods

Charcot Marie Tooth Type 1A

Molecular Genetics Laboratory London Health Sciences Centre
Canada
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Neuropathy with Liability to Pressure Palsies (PMP22)

Molecular Genetics Laboratory London Health Sciences Centre
Canada
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PMP22 Gene, Deletion/Duplication

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
123129
  • E Sequence analysis of select exons

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

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Peripheral myelin protein 22 (PMP22) gene dosage evaluation by MLPA analysis

Neurogenetics Department Cyprus Institute of Neurology and Genetics
Cyprus
11
  • D Deletion/duplication analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

PMP22 - MLPA

Centogene AG - the Rare Disease Company
Germany
61
  • D Deletion/duplication analysis

PMP22 - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
61
  • 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

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

CentoHear Panel

Centogene AG - the Rare Disease Company
Germany
203194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Charcot-Marie-Tooth disease, type 1A, 118220, Autosomal dominant; CMT1A (Charcot-Marie-Tooth disease type 1A) (PMP22 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

Charcot-Marie-Tooth disease, type 1A, 118220, Autosomal dominant; CMT1A (Charcot-Marie-Tooth disease type 1A) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication 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.