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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

CAMTA1 - 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

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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
638419
  • D Deletion/duplication analysis

Cerebellar ataxia, nonprogressive, with mental retardation, 614756, Autosomal dominant (Non-progressive cerebellar ataxia with intellectual disability) (CAMTA1 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

Cerebellar ataxia, nonprogressive, with mental retardation, 614756, Autosomal dominant (Non-progressive cerebellar ataxia with intellectual disability) (CAMTA1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
294481
  • 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

Cerebellar ataxia, nonprogressive, with mental retardation: Full gene sequencing

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

Early-Onset Ataxia NGS Panel

Fulgent Genetics
United States
507135
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia NGS Panel

Fulgent Genetics
United States
535152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CAMTA1 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.