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Results: 21 to 40 of 57

Tests names and labsConditionsGenes, analytes, and microbesMethods

Leber Congenital Amaurosis and Retinitis Pigmentosa via the CRB1 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Retinitis pigmentosa

VECMD Retina and Genomics Institute VECMD
Mexico
98
  • L Linkage analysis

Macular dystrophy panel. NGS panel of 26 genes.

Genologica Medica
Spain
5026
  • C Sequence analysis of the entire coding region

Leber's congenital amaurosis panel. NGS panel of 26 genes.

Genologica Medica
Spain
4026
  • C Sequence analysis of the entire coding region

Rod and cone dystrophy panel. 42-gene NGS panel.

Genologica Medica
Spain
6541
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa panel

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

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

CRB1 Sequence Analysis (Familial Mutation/Variant Analysis)

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

Ciliopathies

Asper Biogene Asper Biogene LLC
Estonia
166120
  • C Sequence analysis of the entire coding region

CRB1

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
7571
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Plus Panel

Fulgent Genetics
United States
716335
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Panel

Fulgent Genetics
United States
636298
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Plus Panel

Fulgent Genetics
United States
661306
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Panel

Fulgent Genetics
United States
690326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes

Reference Laboratory Genetics
Spain
5757
  • C Sequence analysis of the entire coding region

Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes

Reference Laboratory Genetics
Spain
4141
  • C Sequence analysis of the entire coding region

Cone-Rod Dystrophy NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4537
  • C Sequence analysis of the entire coding region

RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
1010
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 57

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.