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Results: 1 to 20 of 56 (representing 25 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Episodic ataxia type 2

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. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

CACNA1A. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

CACNA1A. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

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

nucSEEK® 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

EPISODIC ATAXIA TYPE 2

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Episodic ataxia type 1 and 2 (deletions/duplications analysis of KCNA1 and CACNA1A genes)

CGC Genetics
Portugal
22
  • D Deletion/duplication analysis

Episodic ataxia type 1 and 2 (deletions/duplications analysis of KCNA1 and CACNA1A genes)

CGC Genetics
Portugal
22
  • D Deletion/duplication analysis

Episodic Ataxia Type 2, Deletions-Duplications (MLPA) CACNA1A Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Episodic Ataxia Type 2, Sequencing CACNA1A Gene

Reference Laboratory Genetics
Spain
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

Episodic ataxia panel

LifeLabs Genetics
Canada
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Results: 1 to 20 of 56

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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