U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 20 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

CACNA1S - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
31
  • 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

Invitae
United States
202128
  • D Deletion/duplication analysis

Invitae Malignant Hyperthermia Susceptibility Panel

Invitae
United States
83
  • D Deletion/duplication analysis

Thyrotoxic periodic paralysis, susceptibility to, 1, 188580, Isolated cases; TTPP1 (Thyrotoxic periodic paralysis) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Thyrotoxic periodic paralysis, susceptibility to, 1, 188580, Isolated cases; TTPP1 (Thyrotoxic periodic paralysis) (CACNA1S gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
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 Periodic Paralysis Panel

Invitae
United States
186
  • D Deletion/duplication analysis

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics
United States
10683
  • 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

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

CACNA1S Full Gene Sequencing Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
31
  • C Sequence analysis of the entire coding region

Myotonia Panel

GeneDx
United States
1210
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

Malignant Hyperthermia

Asper Biogene Asper Biogene LLC
Estonia
73
  • C Sequence analysis of the entire coding region

Thyrotoxic periodic paralysis: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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.