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Results: 1 to 20 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

LRMDA Gene Albinism, oculocutaneous type 7 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • 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

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Albinism, oculocutaneous, type VII, 615179, Autosomal recessive; OCA7 (Oculocutaneous albinism type 7) (C10orf11 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Albinism

Amplexa Genetics Amplexa Genetics A/S
Denmark
128
  • S Mutation scanning of the entire coding region

Hypopigmentation Panel

PreventionGenetics, part of Exact Sciences
United States
3933
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Oculocutaneous Albinism Type 7 (OCAVII) via the LRMDA (C10orf11) 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

Oculocutaneous Albinism (OCA) Panel

PreventionGenetics, part of Exact Sciences
United States
1815
  • 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

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

Hermansky-Pudlak syndrome and differential diagnosis (WES based NGS panel of 17 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
117
  • C Sequence analysis of the entire coding region

Dermatology Panel 

CGC Genetics Unilabs
Portugal
1277
  • C Sequence analysis of the entire coding region

Albinism oculocutaneous type VII (sequence analysis of C10orf11 gene)

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

Clinically Recognized Syndromes Panel

Mendelics
Brazil
1236
  • C Sequence analysis of the entire coding region

ALBINISM EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
127
  • E Sequence analysis of select exons

HERMANSKY-PUDLAK SYNDROME EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
131
  • E Sequence analysis of select exons

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

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.