Royal Free London NHS Foundation Trust
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Haemophilia and thrombosis: Molecular genetics laboratory

We provide genetic analysis for a variety of inherited bleeding disorders and inherited thrombophilias. This includes analysis in affected individuals and carriers to define the causative mutation. Once the causative mutation is defined other family members may be screened. This also enables pre-natal diagnosis which must be arranged with the laboratory beforehand.

Inherited bleeding disorders tested

  • Haemophilia A (Factor VIII deficiency)
  • Haemophilia B (Factor IX deficiency)
  • Type 2 von Willebrand’s Disease
  • Factor XI deficiency
  • Factor VII deficiency

Inherited thrombophilic disorders tested

  • Antithrombin deficiency
  • Protein C deficiency
  • Other disorders may be analysed after discussion with the laboratory

Sample requirements

  • 20 ml whole blood in EDTA
  • Samples can be posted by normal mail at ambient temperature
  • Samples should arrive in the laboratory from Monday to Thursday
  • Ideally samples should be posted as soon as they are taken. If this is not practical (e.g. because the sample might then arrive at the weekend) the blood should be stored at 4 °C (not frozen) and posted as soon as possible. However, the yield of DNA may be reduced by prolonged storage.

Forms

It is essential that patients are specifically consented for DNA analysis. Appropriate consent forms may be downloaded from the genetics pages of the UKHCDO at http://www.ukhcdo.org/genetics_nw.htm

Address for sending samples

Gill Mellars
Head BMS of the molecular genetics laboratory
Katharine Dormanfy Haemophilia Centre and Thrombosis Unit
Royal Free London NHS Foundation Trust
Pond Street
Hampstead
LONDON NW3 2QG


Further information

For laboratory enquiries:
  • Gill Mellars, Head BMS of the molecular genetics laboratory
For clinical advice:
  • Dr Keith Gomez, senior lecturer/consultant haematologist on (020) 7794 0500 ext 35561.

 
page last reviewed: 21 December 2012