Hermansky-Pudlak Syndrome
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000562600.2
- Last updated: 2023-01-16
- Annual Review past due read more
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Hermansky-Pudlak syndrome
Offered by Amplexa Genetics
Methodology
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- SMutation scanning of the entire coding region
- Bi-directional Sanger Sequence AnalysisNext-Generation (NGS)/Massively parallel sequencing (MPS)
- SeqStudio Genetic Analyzer
Test development
HelpHow the test was developed (e.g. Laboratory Developed Test (LDT), FDA reviewed, externally manufactured kit, modified FDA-reviewed test, or combination). Intended to help differentiate certification requirements between the test types. Reflex testing not included here.Test developed by laboratory (no manufacturer test name)
- NCI PDQ, Skin CancerGenetics of Skin Cancer (PDQ®): Health Professional Version
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
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