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Results: 1 to 20 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neuromuscular Disorders exome

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Surgical Risk Screen

Invitae
United States
248
  • 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

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

King-Denborough syndrome, 145600, Autosomal dominant (King-Denborough syndrome) (RYR1 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

King-Denborough syndrome, 145600, Autosomal dominant (King-Denborough syndrome) (Prenatal) (MLPA)

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

King-Denborough syndrome, 145600, Autosomal dominant (King-Denborough syndrome) (MLPA)

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

King-Denborough syndrome, 145600, Autosomal dominant (King-Denborough syndrome) (RYR1 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

Malignant hyperthermia susceptibility 1, 145600, Autosomal dominant; MHS1 (Malignant hyperthermia) (RYR1 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

Malignant hyperthermia susceptibility 1, 145600, Autosomal dominant; MHS1 (Malignant hyperthermia) (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 78 Gene Actionable Disorders Panel

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

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Periodic Paralysis Panel

Invitae
United States
186
  • D Deletion/duplication analysis

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics, part of Exact Sciences
United States
10683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
223198
  • 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
183142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 47

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.