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Results: 1 to 20 of 41

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

CABP4 - NGS including CNV analysis

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

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Stationary Night Blindness Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3622
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cone-rod synaptic disorder, congenital nonprogressive, 610427, Autosomal recessive; CRSD (Congenital stationary night blindness) (CABP4 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

Labcorp Genetics (formerly Invitae) LabCorp
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

Focused Inherited Retinal Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
3631
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Stationary Night Blindness Panel

PreventionGenetics, part of Exact Sciences
United States
1817
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leber Congenital Amaurosis Panel

PreventionGenetics, part of Exact Sciences
United States
2728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cone-Rod Dystrophy via the CABP4 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

CABP4 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
11
  • C Sequence analysis of the entire coding region

Leber Congential Amaurosis Panel (MitomeNGS)

Baylor Genetics
United States
3219
  • C Sequence analysis of the entire coding region

CABP4 Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region

CABP4 Sequence & Deletion/Duplication Analysis

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

CABP4 Prenatal Sequence Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

CABP4 Familial Mutation/Variant Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Results: 1 to 20 of 41

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.