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Results: 41 to 60 of 109

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Disease Risk Test

Color Diagnostics, LLC DBA Color Health
United States
5159
  • C Sequence analysis of the entire coding region

Myopathies panel

CGC Genetics Unilabs
Portugal
1181
  • C Sequence analysis of the entire coding region

Non-dystrophic myotonias and periodic paralysis (WES based NGS panel of 13 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
113
  • C Sequence analysis of the entire coding region

Rhabdomyolysis and metabolic muscle diseases (WES based NGS panel of 55 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
155
  • C Sequence analysis of the entire coding region

Hypokalemic periodic paralysis (deletion/duplication analysis on CACNA1S and SCN4A genes)

CGC Genetics Unilabs
Portugal
12
  • D Deletion/duplication analysis

Hypokalemic periodic paralysis type 1 (sequencing and CNV analysis of CACNA1S gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Neuromuscular Diseases Panel (Expanded)

Mendelics
Brazil
1288
  • C Sequence analysis of the entire coding region

MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1416
  • E Sequence analysis of select exons

CACNA1S. Complete sequencing by NGS

Laboratorio de Genetica Clinica SL
Spain
11
  • E Sequence analysis of select exons

MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL

Laboratorio de Genetica Clinica SL
Spain
1250
  • E Sequence analysis of select exons

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

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 Genetic Analysis (CACNA1S 4 Mutations & SCN4A 5 Mutation)

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • 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

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • 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

Xpanded Adult Movement Disorders Panel

GeneDx
United States
5473
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Malignant Hyperthermia (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
42
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 109

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.