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Results: 1 to 20 of 243

Tests names and labsConditionsGenes, analytes, and microbesMethods

SCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic DNA Test

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

CACNA1A Gene Spinocerebellar ataxia type 6, autosomal dominant NGS Genetic DNA Test

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

CACNA1A Gene Episodic ataxia type 2 NGS Genetic DNA Test

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

CACNA1A Gene Familial hemiplegic migraine type 1 NGS Genetic DNA Test

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

Ataxia Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1199
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spinocerebellar Ataxia Panel

Mayo Clinic Laboratories Mayo Clinic
United States
55
  • T Targeted variant analysis

Comprehensive Epilepsy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1318
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

Hemiplegic Migraine Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
29
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spinocerebellar Ataxia Panel (SCA1,2,3,6, and 7)

Center for Genetics at Saint Francis Saint Francis Hospital
United States
55
  • T Targeted variant analysis

SCA Panel (SCA1, 2, 3, 6, 7) test

Neurogenetics Department Cyprus Institute of Neurology and Genetics
Cyprus
55
  • T Targeted variant analysis

A1a voltage-dependent calcium channel subunit (CACNA1A) gene CAG triplet repeat test

Neurogenetics Department Cyprus Institute of Neurology and Genetics
Cyprus
11
  • T Targeted variant analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

GLOBALpgx

Eugenomic S.L.
Spain
121
  • T Targeted variant analysis

CACNA1A - repeat expansion analysis

Centogene AG - the Rare Disease Company
Germany
41
  • T Targeted variant analysis

CACNA1A - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • 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

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 243

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.