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GTR Home > Tests > Oculocutaneous Albinism

Overview

Test name

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Oculocutaneous Albinism

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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Order URL Help: https://www.asperbio.com/asper-ophthalmics/oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome-genetic-testing-ngs-panel

Specimen source

Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NextSeq 500

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Result interpretation
  • Custom mutation-specific/Carrier testing

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.