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Results: 1 to 20 of 109

Tests names and labsConditionsGenes, analytes, and microbesMethods

Precision HealthPGx Panel (25 Genes)

RPRD Diagnostics, LLC
United States
9723
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Whole Pharmacogenomics Scan

RPRD Diagnostics, LLC
United States
10769
  • D Deletion/duplication analysis
  • T Targeted variant analysis

SNCA Gene PARK4 Parkinson NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

CACNA1S Gene Thyrotoxic periodic paralysis type 1 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

CACNA1S Gene Hypokalemic periodic paralysis type 1 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

CACNA1S Gene Malignant hyperthermia type 5 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Neuromuscular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Muscle Channelopathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
45
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

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

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 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 Panel, Sequencing

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
12
  • C Sequence analysis of the entire coding region

Pharmacogenomics SNaP-Shot

Ariel Precision Medicine
United States
126
  • T Targeted variant analysis

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

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

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

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

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

Results: 1 to 20 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.