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Results: 1 to 20 of 88

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Invitae Rhabdomyolysis and Metabolic Myopathy Panel

Invitae
United States
202128
  • D Deletion/duplication analysis

Creatine phosphokinase, elevated serum, 123320, Autosomal dominant (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

Creatine phosphokinase, elevated serum, 123320, Autosomal dominant (MLPA)

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

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

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

Invitae Comprehensive Muscular Dystrophy Panel

Invitae
United States
11452
  • D Deletion/duplication analysis

Invitae Limb-Girdle Muscular Dystrophy Panel

Invitae
United States
9137
  • D Deletion/duplication analysis

Invitae Comprehensive Myopathy Panel

Invitae
United States
14370
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Dystrophinopathies

Genetics Center
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Cadiac Disorders Panel

Dhiti Omics Technologies Private Ltd
India
6033
  • C Sequence analysis of the entire coding region

Congenital muscular dystrophy and LGMD panel. 42-gene NGS panel.

Genologica Medica
Spain
9642
  • C Sequence analysis of the entire coding region

Arrhythmia panel. NGS panel of 55 genes.

Genologica Medica
Spain
12855
  • C Sequence analysis of the entire coding region

Long QT syndrome panel. 16-gene NGS panel.

Genologica Medica
Spain
3616
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 88

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.