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Results: 1 to 20 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

FLVCR1 - 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

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • 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

Ataxia, posterior column, with retinitis pigmentosa, 609033, Autosomal recessive; AXPC1 (Posterior column ataxia-retinitis pigmentosa syndrome) (FLVCR1 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

Invitae Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • 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

Autosomal Recessive Retinitis Pigmentosa via the FLVCR1 Gene

PreventionGenetics, Part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Sensory and Autonomic Neuropathy Panel

PreventionGenetics, Part of Exact Sciences
United States
2020
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Retinitis Pigmentosa Panel

PreventionGenetics, Part of Exact Sciences
United States
9182
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Recessive Retinitis Pigmentosa (RP) Panel

PreventionGenetics, Part of Exact Sciences
United States
6260
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Ataxia, posterior column, with retinitis pigmentosa (sequence analysis of FLVCR1 gene)

CGC Genetics Unilabs
Portugal
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

Retinitis pigmentosa panel

Genologica Medica
Spain
164108
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40

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.