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Results: 1 to 20 of 30 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

Congenital Myopathy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
3026
  • C Sequence analysis of the entire coding region

Congenital Myopathy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
3224
  • D Deletion/duplication analysis

AllNeuro panel

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

BIN1 deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

BIN1 sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Sequencing Panel

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

BIN1. Complete sequencing

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

Centronuclear Myopathy Sequencing Panel

PreventionGenetics
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myopathy Sequencing Panel

PreventionGenetics
United States
3230
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Centronuclear Myopathy-2, Autosomal Recessive via the BIN1 Gene

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

Congenital myopathy (NGS panel of 19 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

Congenital myopathy (NGS panel of 19 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
244144
  • C Sequence analysis of the entire coding region

Autosomal Recessive Centronuclear Myopathy , Sequencing BIN1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Congenital Myopathy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Centronuclear Myopathy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
146
  • C Sequence analysis of the entire coding region

Congenital Myopathy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
2621
  • 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 Comprehensive Myopathy Panel

Invitae
United States
5850
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Centronuclear Myopathy Panel

Invitae
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 30

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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