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Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Hypopigmentation Panel

Invitae
United States
8346
  • D Deletion/duplication analysis

[Skin/hair/eye pigmentation 4, fair/dark skin], 113750, Autosomal recessive (Oculocutaneous albinism type 6) (SLC24A5 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

Albinism, oculocutaneous, type VI, 113750, Autosomal recessive (Oculocutaneous albinism type 6) (SLC24A5 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

Oculocutaneous Albinism Type 6 (OCAVI) via the SLC24A5 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 , Panel Massive Sequencing (NGS) 7 Genes

Reference Laboratory Genetics
Spain
77
  • C Sequence analysis of the entire coding region

Albinism , Panel Massive Sequencing (NGS) 12 Genes

Reference Laboratory Genetics
Spain
1312
  • C Sequence analysis of the entire coding region

Ocular Albinism & Hermansky-Pudlak Syndrome NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
1718
  • C Sequence analysis of the entire coding region

OCULOCUTANEOUS ALBINISM (OCA)

Laboratorio de Genetica Clinica SL
Spain
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel

Molecular Vision Laboratory
United States
4529
  • C Sequence analysis of the entire coding region

Oculocutaneous Albinism

Asper Biogene Asper Biogene LLC
Estonia
2722
  • C Sequence analysis of the entire coding region

SLC24A5 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Albinism NGS Panel

Fulgent Genetics
United States
5228
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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.