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Results: 1 to 20 of 36

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Surgical Risk Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
248
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CACNA1S - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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

Invitae Malignant Hyperthermia Susceptibility Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
83
  • D Deletion/duplication analysis

Malignant hyperthermia susceptibility 5, 601887, Autosomal dominant (Malignant hyperthermia) (MLPA)

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

Malignant hyperthermia susceptibility 5, 601887, Autosomal dominant (Malignant hyperthermia) (CACNA1S 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 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 78 Gene Actionable Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
22075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Periodic Paralysis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
186
  • D Deletion/duplication analysis

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
525338
  • C Sequence analysis of the entire coding region

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics, part of Exact Sciences
United States
10783
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neuromuscular Panel

PreventionGenetics, part of Exact Sciences
United States
185142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Myopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14370
  • D Deletion/duplication analysis

Invitae Congenital Myopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6137
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
353208
  • D Deletion/duplication analysis

Malignant Hyperthermia Susceptibility Panel

PreventionGenetics, part of Exact Sciences
United States
63
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CACNA1S MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • D Deletion/duplication analysis

Periodic paralysis panel. Panel NGS genes: CACNA1S, CLCN1, KCNJ2, SCN4A.

Genologica Medica
Spain
134
  • C Sequence analysis of the entire coding region

Preventive 59

Genologica Medica
Spain
17259
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 36

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.