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Results: 1 to 20 of 59 (representing 35 labs)

Tests names and labsConditionsGenes and analytesMethods

Cerebral Cortical Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
2326
  • D Deletion/duplication 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

Cerebral Cortical Malformation Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
5453
  • C Sequence analysis of the entire coding region

Spinocerebellar ataxia type 6

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Next Generation Sequencing for FHM, EA2, SCA6, CADASIL, Epilepsy

Genomics Research Centre Diagnostics Clinic Queensland Unstitute of Technology
Australia
94
  • C Sequence analysis of the entire coding region

CACNA1A. CAG expansion detection by PCR

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A. Detection of the expansions associated to SCA1, SCA2, SCA3, SCA6 and SCA7 by PCR

Instituto de Medicina Genomica
Spain
65
  • 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

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Spinocerebellar ataxia type 6

Molecular Diagnostic Laboratory Diagnostic Services of Manitoba, Health Sciences Centre site
Canada
11
  • T Targeted variant analysis

SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs)

Laboratorio de Genetica Clinica SL
Spain
1819
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spinocerebellar ataxia 6

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

Treatable Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
7251
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy (EIEE) Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5534
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myoclonic Seizures B Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3618
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spinocerebellar ataxia panel

LifeLabs Genetics
Canada
2925
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Migraine Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3312
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CACNA1A Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
41
  • C Sequence analysis of the entire coding region

Ataxia

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3432
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 59

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.

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