Laboratory services


Sample requirements 

For molecular genetic analysis (including array CGH) please send blood in EDTA anticoagulant.

For cytogenetic analysis, please send blood in lithium heparin anticoagulant.

Adults: 4-8ml

Children and infants: 1-3ml

Appropriate referrals for genetic testing

  • Where there is a reasonable clinical indication (i.e. test result will help in diagnosis, counselling, clinical management or decision making or other medical intervention)
  • Diagnostic confirmation or exclusion
  • Carrier testing for relatives (and their partners) when there is an established family history of recessive disease
  • Pre-symptomatic predictive testing when there is an established family history of adult-onset dominant disease
  • Prenatal diagnosis (offered through specialist obstetric and/or genetic counselling services).
  • Referral to other UK labs for specialist testing for very rare disorders
  • Long term DNA banking for future testing.

Useful documents

User Guide

Molecular Genetics referral form

Karyotype/FISH and array referral form

Cytogenetic tissue referral form

Prenatal referral form

Page updated 22/11/17 ZA