SCOTTISH MOLECULAR GENETICS CONSORTIUM
Department of Medical Genetics
Polwarth Building,
University of Aberdeen,
Foresterhill,
Aberdeen, AB25 2ZR
Tel 01224-553-888
Fax 01224-559-390
FAMILIAL HYPERCHOLESTEROLAEMIA (FH)
DNA TEST REQUEST FORM
Patient details
Name:
Address:
Referrer details
Name:
Address for report:
Dob:
CHI:
Hospital No:
Family No:
Sex:
Contact No:
Or E-mail
Date of sample:
Time of sample:
PLEASE ENSURE PATIENT DETAILS ARE ALSO RECORDED ON SAMPLE
The following clinical details are required to enable us to develop the service in an evidence
based manner targeted for our population, and are therefore required. Free testing is
available for index cases who fulfil definite or possible Simon Broome criteria (see
www.nice.org.uk/nicemedia/pdf/CG071QuickRefGuide.pdf ), and are Scottish residents.
Test requests in other circumstances should be discussed with the laboratory.
TYPE OF TEST REQUESTED
Mutation screen of LDL-R and common mutations in Apo B/PCSK9 for index case in family 
Test for mutation already found in family (genetics access only)
1) DOES PATIENT HAVE:
 Total cholesterol >7.5mmol/l (>6.7mmol/l in child <16yrs)
 LDL cholesterol >4.9mmol/l (>4.0mmol/l in child <16yrs)
 tendon xanthomas in patient, or in a 1st or 2nd degree relative
 Family history of myocardial infarction: <50 yrs in a 2nd degree relative, or
<60 yrs in a 1st degree relative.
 Family history of raised total cholesterol: >7.5mmol/l in adult 1st or 2nd degree relative
or >6.7mmol/l in child or sibling <16 yrs.
CB and ZM August 2009
Please include the following information ABOUT YOUR PATIENT if you have it:
Pre-treatment Total cholesterol
(fasting
Y
N D/K)
__ mmol/l
Current Total cholesterol
(fasting
Y
N D/K)
mmol/l
Pre-treatment LDL-cholesterol
(fasting
Y
N D/K)
mmol/l
Current LDL-cholesterol
(fasting
Y
N D/K)
mmol/l
2) SECONDARY CAUSES of hypercholesterolaemia excluded? (e.g. LFT, TFT)
If no, please exclude before requesting test
Y
N
D/K
3) IF PATIENT DOES NOT FULFILL SIMON BROOME CRITERIA, PLEASE
EXPLAIN BELOW WHY YOU THINK THE SAMPLE SHOULD BE TESTED:
It is the referring clinician’s responsibility to obtain informed consent from the
patient/carer for the test and for the sample to be stored for any future diagnostic
testing
CLINICIAN SIGNATURE_____________________
DATE________________
CB and ZM August 2009