Molecular genetics laboratory repertoire

 

Thrombotic screening

(Factor V Leiden, PT20210 and MTHFR)
Turnaround times 15 days.

Screening for other risk factors may be appropriate e.g. Apo E genotype in arterial disease or Fibrinogen-455G/A in case of PE.

Tests needing prior arrangement

All the following tests MUST be arranged through the clinicians of the Centre for Haemostasis and Thrombosis, where turnaround times can be discussed.

  • Haemophilia AFull mutation screening. Gene tracking available if required.
  • Haemophilia BFull mutation screening. Gene tracking available if required.
  • Von Willebrand's disease.  Full mutation screening. Gene tracking available if required.
  • Protein S Deficiency. Mutation screening.
  • Protein C Deficiency. Mutation screening.
  • Antithrombin Deficiency. Mutation screening.
  • Factor II, V, VII, X, XI Deficiency. Mutation screening.
  • Combined FV and FVIII deficiency. Mutation screening. LMAN1 / MCFD2 genes 
  • Fibrinogenaemias (Hypo_, dys_, A_). FGAa, FGBß, FG? genes. Mutation screening.
  • Cystathionine Beta Synthase (CBS) gene. Mutation screening.
  • Bernard-Soulier Syndrome. Gp Ib alpha, Gp IX, and Gp Ib beta genes.
  • Glanzman thrombasthenia. GpIIb and GpIIIa genes
  • May-Hegglin AnomalyMYH9. Mutation screening
  • Cardiovascular risk factors:
    Factor VII 353 G/A Polymorphism
    Fibrinogen-455 G/A Polymorphism
    Fibrinogen 148 C/T Polymorphism
    PAI-1 4G/5G Promotor Polymorphism
    Apo E Genotype
  • Genetic screening for five associated risk factors.

Turnaround times

Turnaround times of those tests, arranged by prior referral to the Centre for Haemostasis and Thrombosis (The Haemophilia Reference Centre) may, by their very nature, prove more complex and require an extended period of investigation. Users of the service are requested to contact clinicians of the Centre for Haemostasis and Thrombosis for further information.

Prenatal diagnosis, using CVS or amniotic fluid, is available. X-linked, autosomal dominant and autosomal recessive disorders are available following discussion with the laboratory. 

For X-linked cases, DNA and or karyotypic analysis to determine fetal sex will be performed before the confirmation of the mutation is undertaken. Mutation identification will only be offered in the event of a male foetus. If the carrier status of a female foetus is determined, this information will be made available to the genetic counsellors for discussion with the consultee.