Inherited bleeding and platelet disorders (R90)

Requires patient informed consent

Sample Reqs

A A

Turnaround

12 weeks

Special instructions

Clinical synopsis, factor levels, bleeding history, family history and informed consent required. Please contact the laboratory if further guidance is needed on what to include on the request form.

Sample type guide

Lavender Vacutainer, EDTA anticoagulant, 4ml/10ml(10ml EDTA tubes are used for specific PCR assays)

Test details

This custom gene panel for bleeding and platelet disorders can be used to help inform the understanding of patients’ clinical and laboratory phenotypes, and of their disorder in general. The 88 genes in the panel have been selected in conjunction with consulting clinicians and Genomics England (NHS Genomics R90 Bleeding and platelet disorders).

This test should be requested following consultation with a Consultant Haematologist and following relevant functional haemostasis testing for individuals with a bleeding or platelet disorder of likely monogenic aetiology or where there are multiple possible causative genes. Referrals for testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.

Examples of the disorders covered:

Bernard-Soulier syndrome
Combined factor V and VIII deficiency
Factor V deficiency
Factor VII deficiency
Factor VIII deficiency (Haemophilia A)
Factor IX deficiency (Haemophilia B)
Factor X deficiency
Factor XI deficiency
Factor XIII deficiency
Fibrinogen deficiency
Gray platelet syndrome
Hereditary hemorrhagic telangiectasia
Heritable Thrombocytopenia
Hermansky-Pudlak syndrome
von Willebrand Disease

Genetic variants are interpreted and reported in line with ACGS/ACMG guidelines, and reports are issued following discussion and authorisation by Clinical Scientists and Consultant Haematologists.

Please complete the Haemophilia and Thrombosis Request for Genetic Status request form, including patient identifiers, factor levels, clinical synopsis, bleeding history, family tree with affected relatives labelled, and sign the box to confirm documentation of consent. The second page of the request form includes guidance for completing a family tree. Samples are unable to be processed without indication that patient informed consent has been given, a clinical synopsis including relevant coagulation factor levels and bleeding and family history.