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Results: 1 to 20 of 34

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Myopathy Panel

Genetic Services Laboratory University of Chicago
United States
3143
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BIN1 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Myopathy, centronuclear, autosomal recessive, 255200, Autosomal recessive (Autosomal recessive centronuclear myopathy) (BIN1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Myopathy, centronuclear, autosomal recessive, 255200, Autosomal recessive (Autosomal recessive centronuclear myopathy) (BIN1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

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 Myopathy Panel

Invitae
United States
14370
  • D Deletion/duplication analysis

Invitae Congenital Myopathy Panel

Invitae
United States
5836
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication 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

Centronuclear Myopathy-2, Autosomal Recessive via the BIN1 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

Arthrogryposis panel. NGS panel of 69 genes.

Genologica Medica
Spain
13569
  • C Sequence analysis of the entire coding region

Comprehensive Dementia (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
10145
  • C Sequence analysis of the entire coding region

Arthrogryposis Panel    

GeneDx
United States
15691
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myopathy Panel, Congenital

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
3317
  • 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: 1 to 20 of 34

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.