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Results: 1 to 20 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

MYH7 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myopathy, myosin storage, autosomal recessive, 255160, Autosomal recessive; MSMB (Hyaline body myopathy) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Myopathy, myosin storage, autosomal recessive, 255160, Autosomal recessive; MSMB (Hyaline body myopathy) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Myopathy, myosin storage, autosomal recessive, 255160, Autosomal recessive; MSMB (Hyaline body myopathy) (MYH7 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, myosin storage, autosomal recessive, 255160, Autosomal recessive; MSMB (Hyaline body myopathy) (MYH7 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

Invitae Genetic Health Screen

Invitae
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardio Screen

Invitae
United States
20881
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae 78 Gene Actionable Disorders Panel

Invitae
United States
22075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HCMFirst® reflex HCMNext®

Ambry Genetics
United States
5830
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HCMNext®

Ambry Genetics
United States
5830
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DCMNext®

Ambry Genetics
United States
10037
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CMNext®

Ambry Genetics
United States
13856
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CardioNext®

Ambry Genetics
United States
18992
  • D Deletion/duplication analysis
  • 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

Invitae Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel

Invitae
United States
13454
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 46

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.