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Results: 1 to 20 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hypokalemic Periodic Paralysis Type 1

Medical Genetics Laboratory Eulji University College of Medicine
South Korea
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Surgical Risk Screen

Invitae
United States
248
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • 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

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

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypokalemic periodic paralysis, type 1, 170400, Autosomal dominant; HOKPP1 (Hypokalemic periodic paralysis) (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 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

RenalZoom

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

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • 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
10683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Periodic Paralysis Panel

PreventionGenetics, part of Exact Sciences
United States
43
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

Hypokalemic periodic paralysis, type 1

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • C Sequence analysis of the entire coding region

Periodic Paralysis Panel

GeneDx
United States
39
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypokalemic and Hyperkalemic Periodic Paralysis Disorders (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
127
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 46

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.