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Results: 21 to 40 of 193

Tests names and labsConditionsGenes, analytes, and microbesMethods

Peripheral Myelin Protein 22 (PMP22) gene sequencing test

Neurogenetics Department Cyprus Institute of Neurology and Genetics
Cyprus
11
  • C Sequence analysis of the entire coding region

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

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

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 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 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 1E, 118300, Autosomal dominant (Charcot-Marie-Tooth disease type 1E) (MLPA)

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

Charcot-Marie-Tooth disease, type 1E, 118300, Autosomal dominant (Charcot-Marie-Tooth disease type 1E) (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: 21 to 40 of 193

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.