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Results: 1 to 20 of 115 (representing 29 labs)

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

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

MyoGene Panel (43 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
10143
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
6625
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Limb-girdle muscular dystrophy, autosomal recessive type 2H

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Limb-girdle muscular dystrophy panel

Centogene AG - the Rare Disease Company
Germany
121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bardet-Biedl syndrome type 11

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bardet Biedl panel

Centogene AG - the Rare Disease Company
Germany
118
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Disorders of Sex Development Sequencing Panel

PreventionGenetics
United States
6469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Disorders of Sex Development and Infertility Sequencing Panel

PreventionGenetics
United States
8696
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Male Infertility Sequencing Panel

PreventionGenetics
United States
7380
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Female Infertility Sequencing Panel

PreventionGenetics
United States
7683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neuromuscular Sequencing Panel

PreventionGenetics
United States
148124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
299280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuromuscular Disorders Sequencing Panel

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

KidneySeq: A Comprehensive Inherited Kidney Disease Panel

Iowa Institute of Human Genetics University of Iowa
United States
124147
  • C Sequence analysis of the entire coding region

Monogenic Obesity Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1332
  • C Sequence analysis of the entire coding region

TRIM32. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel

PreventionGenetics
United States
3233
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 115

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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