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Results: 1 to 20 of 57

Tests names and labsConditionsGenes, analytes, and microbesMethods

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
288218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
123129
  • E Sequence analysis of select exons

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

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

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 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

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • 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

Charcot-Marie-Tooth disease Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
5043
  • 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

Invitae Charcot-Marie Tooth Disease Comprehensive Panel

Invitae
United States
12352
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PMP22

Institute for Human Genetics University Medical Center Freiburg
Germany
61
  • C Sequence analysis of the entire coding region

PMP22 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
61
  • D Deletion/duplication analysis

Genetic Test for Charcot-Marie-Tooth type 1E

CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology
Portugal
11
  • C Sequence analysis of the entire coding region

PMP22 Full Gene Sequencing Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
61
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 57

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.