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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

TTBK2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

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

Episodic Ataxia Panel

PreventionGenetics, part of Exact Sciences
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
638419
  • D Deletion/duplication analysis

Spinocerebellar ataxia 11, 604432, Autosomal dominant (Spinocerebellar ataxia type 11) (TTBK2 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

Genomic UnityⓇ Comprehensive Ataxia Analysis (includes STR analysis of 16 loci)

Variantyx, Inc.
United States
5253
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

TTBK2

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Hereditary ataxias. NGS panel of 139 genes.

Genologica Medica
Spain
220139
  • C Sequence analysis of the entire coding region

Ataxia panel. NGS panel of 157 genes.

Genologica Medica
Spain
247156
  • C Sequence analysis of the entire coding region

Spinocerebellar ataxia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
3837
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

Late-Onset Ataxia NGS Panel

Fulgent Genetics
United States
13356
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia NGS Panel

Fulgent Genetics
United States
533149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spinocerebellar Ataxia Type 11: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs)

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

Ataxia, Complete Dominant Evaluation

Athena Diagnostics
United States
3125
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia, Supplemental Dominant Evaluation

Athena Diagnostics
United States
2216
  • C Sequence analysis of the entire coding region

Ataxia, Comprehensive Evaluation

Athena Diagnostics
United States
4442
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 27

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.