Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel

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.: GTR000597302.1
Last updated: 2022-10-11
Test version history
- 597302.1, last updated: 2022-10-11

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 Platelet-type bleeding disorder 15
Offered by Invitae

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Pre-symptomatic, Therapeutic management

Imported from OMIM

Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by Kunishima et al., 2013).

Imported from Human Phenotype Ontology (HPO)

Epistaxis
Thrombocytopenia
Increased mean platelet volume
Platelet anisocytosis

Conditions tested

The Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel analyzes genes associated with disorders of platelet number or function. These disorders are typically characterized by bleeding symptoms which may include excessive bruising, purpura, excessive bleeding after surgery or trauma, nosebleeds, superficial bleeding into the skin (petechiae), and menorrhagia in women. Note: The GP1BB gene is not offered on this panel. In addition, sequencing for the GP1BA gene is limited to 11 variants.

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel

Indication

Clinical summary

Imported from OMIM

Clinical features