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Results: 21 to 40 of 72

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

MERTK mutation analysis

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

MERTK Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

MERTK Sequence Analysis

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

MERTK Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

MERTK Comprehensive - Sequence & Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Retinitis Pigmentosa 38 (RP38) via the MERTK 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

Genomic Unity® Retinal Disorders Analysis

Variantyx, Inc.
United States
1394
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

NGS panel Pheocromocytoma/Paraganglioma

Centro de Investigaciones Endocrinologicas, Dr Cesar Bergada Hospital de Niños Ricardo Gutierrez
Argentina
130
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa Panel 

CGC Genetics Unilabs
Portugal
1203
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel 

CGC Genetics Unilabs
Portugal
1306
  • C Sequence analysis of the entire coding region

Neuro-Ophthalmology Panel 

CGC Genetics Unilabs
Portugal
1223
  • C Sequence analysis of the entire coding region

Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis)

CGC Genetics Unilabs
Portugal
1307
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa 38 (sequence analysis of MERTK gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa 38 (deletion/duplication analysis of MERTK gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Hereditary Retinopathy Panel

Mendelics
Brazil
1321
  • C Sequence analysis of the entire coding region

GLOBAL CILIOPATHIES EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1273
  • E Sequence analysis of select exons

LEBER CONGENITAL AMAUROSIS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
135
  • E Sequence analysis of select exons

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

Results: 21 to 40 of 72

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.