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Results: 1 to 20 of 65

Tests names and labsConditionsGenes, analytes, and microbesMethods

Myopathy, distal, Tateyama type, 614321, Autosomal dominant; MPDT (Rippling muscle disease) (Prenatal) (MLPA)

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

Myopathy, distal, Tateyama type, 614321, Autosomal dominant; MPDT (Rippling muscle disease) (MLPA)

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

Myopathy, distal, Tateyama type, 614321, Autosomal dominant; MPDT (Rippling muscle disease) (CAV3 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, distal, Tateyama type, 614321, Autosomal dominant; MPDT (Rippling muscle disease) (CAV3 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

Pan Cardiomyopathy Panel (62 Genes)

Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine
United States
10061
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CAV3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • 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

CentoCardio Panel

Centogene AG - the Rare Disease Company
Germany
289275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Rhabdomyolysis and Metabolic Myopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
202128
  • D Deletion/duplication analysis

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
480254
  • C Sequence analysis of the entire coding region

Invitae Genetic Health Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardio Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
20881
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LongQTNext™

Ambry Genetics
United States
3317
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RhythmNext®

Ambry Genetics
United States
9142
  • 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

CardioNext®

Ambry Genetics
United States
18992
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics, part of Exact Sciences
United States
239158
  • 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

Results: 1 to 20 of 65

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.