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Results: 1 to 20 of 34

Tests names and labsConditionsGenes and analytesMethods

Congenital Myopathy with Prominent Contractures Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1712
  • C Sequence analysis of the entire coding region

Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
1712
  • D Deletion/duplication analysis

Congenital Muscular Dystrophy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
4227
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
4126
  • D Deletion/duplication analysis

Congenital Muscular Dystrophy: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
3924
  • D Deletion/duplication analysis

LGMD and Congenital Muscular Dystrophy Panel

Blueprint Genetics
Finland
233
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Panel

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
679
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel

Invitae
United States
167113
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Muscular Dystrophy Panel

Invitae
United States
3226
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Muscular Dystrophy Panel

Invitae
United States
4946
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Disorders of Glycosylation Panel

Invitae
United States
5649
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
141104
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RNF123

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TMEM5

Fulgent Genetics
United States
371
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

POMK

Fulgent Genetics
United States
571
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GSTZ1

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

B4GAT1

Fulgent Genetics
United States
461
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BRMS1

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COL12A1

Fulgent Genetics
United States
171
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GMPPB

Fulgent Genetics
United States
491
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 34

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.

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