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Results: 1 to 20 of 103

Tests names and labsConditionsGenes, analytes, and microbesMethods

Spinocerebellar Ataxia Panel

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

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

CACNA1A - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CACNA1A - repeat expansion analysis

Centogene US, LLC - The Rare Disease Company
United States
41
  • 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

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics
United States
340153
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Familial Hemiplegic Migraine Panel

Invitae
United States
217
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Episodic Ataxia Panel

PreventionGenetics
United States
6136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
646420
  • D Deletion/duplication analysis

Spinocerebellar ataxia 6, 183086, Autosomal dominant (Spinocerebellar ataxia type 6)(Repeat Analysis)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • T Targeted variant analysis

Spinocerebellar ataxia 6, 183086, Autosomal dominant (Spinocerebellar ataxia type 6) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Genomic UnityⓇ Ataxia Repeat Expansion Analysis (STR analysis of 12 loci)

Variantyx, Inc.
United States
1212
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Genomic UnityⓇ Comprehensive Ataxia Analysis (includes STR analysis of 12 loci)

Variantyx, Inc.
United States
5252
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Wole Exome Sequencing for Hemiplegic Migraine, Epilepsy, Ataxia, CADASIL/Small Vessel Disease

Genomics Research Centre Queensland University of Technology
Australia
124
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 103

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.