- Unknown type - GTR - NCBI

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Unknown type

offered by

GTR Test Accession:

Last updated in GTR:

At a Glance

Conditions (10):

Hermansky-Pudlak syndrome 1; Hermansky-Pudlak syndrome 10; Hermansky-Pudlak syndrome 2 more...

Genes (10):

AP3B1 (5q14.1); AP3D1 (19p13.3); BLOC1S3 (19q13.32); BLOC1S6 (15q21.1); DTNBP1 (6p22.3) more...

Conditions

Total conditions: 10

Condition/Phenotype	Identifier

Methodology

Total methods: 0

Method Category

Test method

Instrument *

* Instrument: Not provided

Technical Information

Recommended fields not provided:

Test Confirmation

Additional Information

Reviews:

PubMed Clinical Queries

Reviews in PubMed

Clinical resources:

Clinicaltrials.gov

Molecular resources:

View HPS1 variations in ClinVar

Coriell Institute for Medical Research

Consumer resources:

Genetic Alliance

MedlinePlusGenetics (GHR)

NCATS Office of Rare Diseases Research (GARD)

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.