U.S. flag

An official website of the United States government

GTR Home > Tests > PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

Help

Imported from OMIM

Scott syndrome is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents (Munnix et al., 2003).

Clinical features

Help

Imported from Human Phenotype Ontology (HPO)

  • Abnormal bleeding
  • Factor X activation deficiency

Conditions tested

Target population

Help

Not provided

Clinical validity

Help

We acquired six positive control samples by searching the cell line biorepository at the Coriell Institute for Medical Research. These six samples were collected from patients diagnosed with either Hermansky-Pudlak, Chediak-Higashi, or Bernard-Soulier syndromes. In all six cases, we identified either pathogenic or likely pathogenic variants, suggesting the clinical specificity might be high, at least for these three syndromes.

Citations

Not provided

Clinical utility

Help

Establish or confirm diagnosis

Citations

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.