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Results: 21 to 40 of 131

Tests names and labsConditionsGenes, analytes, and microbesMethods

NEB-Related Nemaline Myopathy

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nemaline Myopathy via the NEB Gene, Exons 82-105 (Triplicate Repeat Region)

PreventionGenetics, part of Exact Sciences
United States
11
  • E Sequence analysis of select exons
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
326300
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Panel

PreventionGenetics, part of Exact Sciences
United States
376266
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Myopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14370
  • D Deletion/duplication analysis

Invitae Congenital Myopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
5836
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

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

Nemaline Myopathy (NEM2) via the Nebulin (NEB) Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nemaline Myopathy Panel

PreventionGenetics, part of Exact Sciences
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myopathy Panel

PreventionGenetics, part of Exact Sciences
United States
5842
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nemaline Myopathy via the NEB exon 55 deletion

PreventionGenetics, part of Exact Sciences
United States
11
  • T Targeted variant analysis

Neuromuscular Disorders Panel

Baylor Genetics
United States
1142
  • C Sequence analysis of the entire coding region

GeneAware™ Expanded Panel (Female)

Baylor Genetics
United States
1422
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Panel (Male)

Baylor Genetics
United States
1382
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware™ Expanded Plus Panel (Female)

Baylor Genetics
United States
1446
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Plus Panel (Male)

Baylor Genetics
United States
1401
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthrogryposis (NGS panel for 49 genes)

CGC Genetics Unilabs
Portugal
149
  • C Sequence analysis of the entire coding region

Neuromuscular diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
17248
  • C Sequence analysis of the entire coding region

Myopathies panel

CGC Genetics Unilabs
Portugal
1181
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 131

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.