PLEASE RETURN THIS FORM WITH EDTA BLOOD OR DNA WHEN GENETIC TESTING FOR HYPERINSULINISM IS REQUESTED
Genetic testing for hyperinsulinism
Please send EDTA blood (1ml minimum for neonates, 5-10ml for children and 10-20ml for adults) or DNA to Prof S. Ellard,
Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5AD, UK
Please include samples from both parents whenever possible – whether affected or unaffected.
Please fill in this form electronically, e-mail to sian.ellard@nhs.net and send a printed copy with the blood/DNA samples to: Prof Sian
Ellard, Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5AD, UK
For clinical advice please contact Dr Khalid Hussain by e-mail K.Hussain@ich.ucl.ac.uk or telephone +44 207 9052128
Patient details
SURNAME:
CLINICIAN NAME:
FORENAME:
TELEPHONE:
D.O.B.:
E-MAIL ADDRESS:
NHS/CHI NUMBER:
ADDRESS FOR REPORT:
ADDRESS FOR INVOICE:
HOSPITAL NUMBER:
GENDER:
ETHNIC ORIGIN:
TYPE OF TEST (NHS/RESEARCH):
IF NHS REFERRAL, HAS CONSENT FOR RESEARCH BEEN OBTAINED?:
Parent details
MOTHER’S SURNAME:
MOTHER’S FORENAME:
MOTHER’S D.O.B.:
FATHER’S SURNAME:
FATHER’S FORENAME:
FATHER’S D.O.B.:
Clinical information
AGE AT PRESENTATION (WEEKS):
DURATION OF HYPERINSULINISM:
CURRENT TREATMENT:
RESPONSIVE TO CURRENT TREATMENT?:
18F-DOPA/PET CT SCAN PERFORMED?:
BIRTH WEIGHT (g):
INSULIN LEVEL (mU/l):
GLUCOSE LEVEL (mmol/l):
OTHER MEDICATIONS TRIED? PLEASE GIVE DETAILS (NAME OF DRUG, DURATION TRIED):
IF YES, FOCAL/DIFFUSE/ATYPICAL DISEASE?:
GESTATION (WEEKS):
C-PEPTIDE (pmols/l):
PANCREATECTOMY PERFORMED?:
IUGR?:
IF YES, FOCAL/DIFFUSE/ATYPICAL DISEASE?:
PERINATAL ASPHYXIA?:
ANY SYNDROMIC FEATURES (E.G. BECKWITH WEIDEMANN SYNDROME)? PLEASE GIVE DETAILS:
HYPERAMMONAEMIA? (GIVE LEVEL AND NORMAL RANGE):
ANY OTHER MEDICAL PROBLEMS? (PLEASE GIVE DETAILS):
Family history
ARE PARENTS RELATED? IF YES, HOW?:
ANY FAMILY HISTORY OF HYPOGLYCAEMIA?:
ANY FAMILY HISTORY OF DIABETES? PLEASE GIVE DETAILS OF AFFECTED FAMILY MEMBERS (AGE OF ONSET, TREAMENT, AND DURATION OF DIABETES):
IF SAMPLES FROM OTHER FAMILY MEMBERS HAVE BEEN SENT PREVIOUSLY PLEASE GIVE DETAILS:
N.B. A pedigree showing clinical details of affected family members would be very helpful
Testing required
ABCC8 (GENE ENCODING SUR1):
KCNJ11 (GENE ENCODING KIR6.2):
HADH:
HNF4A (FOR PATIENTS WITH DIAZOXIDE RESPONSIVE HYPERINSULINISM DIAGNOSED ≤ 2 WEEKS):
GLUD1:
GCK:
LOH ANALYSIS FOR 11p15 (PARAFFIN-EMBEDDED PANCREATIC TISSUE REQUIRED + LEUKOCYTE DNA):