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Results: 1 to 20 of 42

Tests names and labsConditionsGenes and analytesMethods

Limb-Girdle Muscular Dystrophy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
4630
  • C Sequence analysis of the entire coding region

Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
3925
  • D Deletion/duplication analysis

Congenital Muscular Dystrophy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
4024
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
3923
  • D Deletion/duplication analysis

Comprehensive Lissencephaly Panel

Genetic Services Laboratory University of Chicago
United States
1834
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MyoGene Panel (43 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
9543
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Muscular Dystrophy (LGMD/EDMD) Panel (25 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
6425
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

Walker-Warburg Syndrome via the POMGNT1 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Muscular Dystrophy NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
3025
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel

PreventionGenetics
United States
2117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

DYSTROGLYCANOPATHY

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2411
  • C Sequence analysis of the entire coding region

Walker-Warburg Syndrome

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
167
  • C Sequence analysis of the entire coding region

Congenital disorder of O-linked glycosylation (CDG)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3929
  • C Sequence analysis of the entire coding region

DYSTROPHIES, CONGENITAL MUSCULAR

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2112
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
9988
  • C Sequence analysis of the entire coding region

Muscular dystrophy, dystroglycanopathy

Institute of Human Genetics Cologne University
Germany
2313
  • C Sequence analysis of the entire coding region

lysoSEEK™ Sequence Analysis for Lysosomal Storage Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
11588
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

POMGNT1

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromic Congenital Muscular Dystrophy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
155
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 42

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.