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Results: 1 to 20 of 26

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

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

GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS (Acute inflammatory demyelinating polyradiculoneuropathy) (Prenatal) (MLPA)

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

GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS (Acute inflammatory demyelinating polyradiculoneuropathy) (PMP22 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Neuropathy, inflammatory demyelinating, 139393, Autosomal dominant (Acute inflammatory demyelinating polyradiculoneuropathy) (MLPA)

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

Neuropathy, inflammatory demyelinating, 139393, Autosomal dominant (Acute inflammatory demyelinating polyradiculoneuropathy) (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 University, School of Medicine
United States
480254
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
20196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Charcot-Marie Tooth Disease Comprehensive Panel

Labcorp Genetics (formerly Invitae) LabCorp
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

PMP22 MLPA Duplication/Deletion Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
61
  • D Deletion/duplication analysis

PMP22 - Gene sequencing

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
8530
  • C Sequence analysis of the entire coding region

Syndromic Hearing Loss NGS Panel

Fulgent Genetics
United States
22383
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss NGS Panel

Fulgent Genetics
United States
332167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dejerine-Sottas Syndrome NGS Panel

Fulgent Genetics
United States
145
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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.