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GTR Home > Tests > Hermansky-Pudlak Syndrome Panel

Overview

Test order codeHelp: 4875

Test name

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Hermansky-Pudlak Syndrome Panel

Purpose of the test

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This is a clinical test intended for Help: Prognostic, Mutation Confirmation, Risk Assessment, Diagnosis

Condition

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How to order

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Order URL Help: https://media.versiti.org/versiti/versiti/media/downloadables/diagnostic-labs/requisitions/hematology_genetics_req.pdf

Specimen source

Amniotic fluid
Isolated DNA
Peripheral (whole) blood
Amniocytes
Fetal blood
Bone marrow
White blood cell prep
Buccal swab
Cord blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Comparative Genomic Hybridization
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

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

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.