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Results: 21 to 40 of 76

Tests names and labsConditionsGenes, analytes, and microbesMethods

Limb girdle muscular dystrophy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Limb girdle muscular dystrophy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Limb girdle muscular dystrophy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neuromuscular Panel

PreventionGenetics, part of Exact Sciences
United States
183142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Muscular Dystrophy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
11452
  • D Deletion/duplication analysis

Invitae Limb-Girdle Muscular Dystrophy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9137
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
353208
  • D Deletion/duplication analysis

Limb Girdle Muscular Dystrophy (LGMD) Panel

PreventionGenetics, part of Exact Sciences
United States
3435
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TRIM32

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Congenital muscular dystrophy and LGMD panel. 42-gene NGS panel.

Genologica Medica
Spain
9642
  • C Sequence analysis of the entire coding region

Hereditary ataxias. NGS panel of 139 genes.

Genologica Medica
Spain
220139
  • C Sequence analysis of the entire coding region

Ataxia panel. NGS panel of 157 genes.

Genologica Medica
Spain
247156
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

Ciliopathy panel. NGS panel of 99 genes.

Genologica Medica
Spain
15297
  • C Sequence analysis of the entire coding region

Congenital liver fibrosis panel. NGS panel of 52 genes.

Genologica Medica
Spain
8950
  • C Sequence analysis of the entire coding region

Bardet-Biedl syndrome panel. 23-gene NGS panel.

Genologica Medica
Spain
4423
  • C Sequence analysis of the entire coding region

Girdle muscular dystrophy. NGS panel of 39 genes.

Genologica Medica
Spain
8439
  • C Sequence analysis of the entire coding region

Monogenic obesity panel. 36-gene NGS panel.

Genologica Medica
Spain
5536
  • C Sequence analysis of the entire coding region

Ciliopathies

Asper Biogene Asper Biogene LLC
Estonia
166120
  • C Sequence analysis of the entire coding region

Neuromuscular Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
13862
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 76

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.