Genetic testing for single haemostasis genes

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

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: haemostasis-iron.oxfordgenetics@ouh.nhs.uk

For other contact details, see contact us.

Price list for non NHSE referrals

Price list for rare disease services (pdf)