Molecular Genetics Service


Diagnostic, carrier and predictive testing is offered for a comprehensive range of single gene disorders as well as a DNA banking service whereby samples can be forwarded to external laboratories for approved requests providing funding is available.

A complete list of testing services offered is provided on this web site see:

 

Molecular Genetics Tests

 

or is available to download as a service pack:

 

Click here to download the Regional Genetics Service Pack

 

Click here to download the price list for NHS patients

 


Sending samples to the Molecular Genetics Laboratory

 

Sample Requirements

 

It is the responsibility of the patient's clinician to request a laboratory service/test and to ensure that all samples are correctly labelled and request forms completed to a minimum standard.

 

Consent is not required for DNA storage.  It is the responsibility of the clinician to obtain consent before requesting a genetic test.

 

Click here for a copy of our Test Request Form

Click here for a copy of the Delay-Seizure (EIEE) panel proforma

Click here for a copy of the Hearing Loss panel proforma

Click here for a copy of the Immunodeficiency (PID/SCID) panel proforma

Click here for a copy of the Inflammatory Bowel Disease panel proforma

Click here for information about new NIPD tests

 


Blood Samples

 

5ml venous blood in plastic EDTA bottles (>1ml from neonates)

 

Sample must be labelled with:

 

  • Patient's full name (surname/family name and given/individual name)
  • Date of birth and unique hospital/NHS number
  • It is desirable to have the date and time sample was taken and/or location as well

 


Prenatal Samples

 

Tissue type and date of biopsy should be clearly documented on the referral information.

 

In the case of twins, special attention must be given to the identity of each sample.

 

Minimum criteria:

 

  • Patient's full name (surname/family name and given/individual name)
  • Date of birth and/or unique hospital/NHS number

 


DNA Samples

 

The Association for Clinical Genetic Science (ACGS) guidelines recommend at least two pieces of identifying information on every sample tube.

 

  • Patient's full name (surname/family name and given/individual name)
  • Date of birth and/or unique hospital/NHS number
  • Other information provided with referrals should include a pedigree, where appropriate, with the full names of known individuals and correct family identifiers
  • If results are received e.g. allele numbers, a full explanation of the terminology should be included

 

 Samples which do not meet these criteria may be rejected.

© 2011 Great Ormond Street Hospital for Children NHS Trust