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Oxford University Hospitals NHS Foundation Trust

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Genetic testing for single haemostasis genes

Coagulation/bleeding disorders associated with a clotting factor deficiency, i.e. Haemophilia A and B, are usually associated with a specific single gene.

R123.1 and R124.1 panels contain 2 specific genes associated with clotting factor deficiency.

In cases of unexplained bleeding disorder or thrombophila, the R90 Bleeding and Platelet Disorders gene panel or R97 Thrombophilia with a likely monogenic cause gene panel may be more appropriate.

Testing strategy

Clinically affected individuals

  • R112.1 Factor II deficiency diagnostic testing-unknown mutation(s) by F2 single gene sequencing
  • R115.1 Factor V deficiency diagnostic testing-unknown mutation(s) by F5 single gene sequencing R115.2 Factor V deficiency diagnostic testing-unknown mutation(s) by F5 MLPA
  • R116.1 Factor VII deficiency diagnostic testing-unknown mutation(s) by F7 single gene sequencing
  • R116.2 Factor VII deficiency diagnostic testing-unknown mutation(s) by F7 MLPA
  • R117.1 Factor VII deficiency diagnostic testing-unknown mutation(s) by targeted mutation testing
  • R117.2 Factor VII deficiency diagnostic testing-unknown mutation(s) by single gene sequencing
  • R117.3 Factor VIII deficiency diagnostic testing-unknown mutation(s) by MLPA
  • R118.1 Factor IX deficiency diagnostic testing-unknown mutation(s) by single gene sequencing
  • R118.2 Factor IX deficiency diagnostic testing-unknown mutation(s) by MLPA
  • R119.1 Factor X deficiency diagnostic testing-unknown mutation(s) by single gene sequencing
  • R119.2 Factor X deficiency diagnostic testing-unknown mutation(s) by MLPA
  • R120.1 Factor XI deficiency diagnostic testing-unknown mutation(s) by single gene sequencing
  • R120.2 Factor XI deficiency diagnostic testing-unknown mutation(s) by MLPA
  • R121.1 Factor VWF deficiency diagnostic testing-unknown mutation(s) by single gene sequencing
  • R121.2 Factor VWF deficiency diagnostic testing-unknown mutation(s) by MLPA
  • R122.1 Factor XIII deficiency diagnostic testing-unknown mutation(s) by single gene sequencing
  • R123.1 Combined vitamin K-dependent clotting factor deficiency diagnostic testing-unknown mutation(s) by single gene sequencing
  • R124.1 Combined factor V and VIII deficiency diagnostic testing-unknown mutation(s) by single gene sequencing

NHSE funded test referrals should meet the relevant NHSE eligibility criteria.

Genes Tested: F2, F5, F7, F8, F9, F10, F11, F13A1 and VWF. R123.1 consists of GGCX and VKORC1 genes R124.1 consists of LMAN1 and MCFD2 genes.

Targeted analysis for known / previously reported familial variants

  • Carrier testing in the X linked disorders
  • Family testing
  • Segregation studies in affected family members to aid variant interpretation
  • Prenatal diagnosis
  • Cord blood testing for the familial variant in newborns

Target reporting times

See turnaround times.

Sample requirements and referral information

See specimen requirements and referring samples.

Requesting specialties

  • Haematology
  • Clinical Genetics

Contact details

Email: orh-tr.oxfordMHgen@nhs.net

For other contact details, see contact us.

Price list for non NHSE referrals

Prices are changing from April 2021. A price list for rare disease services from April 2021 (pdf) is available.

Last reviewed:02 August 2021