Molecular Genetic Testing for MODY (Maturity-Onset Diabetes of the Young)
Molecular Genetic Testingfor Hyperinsulinism
Please send EDTA blood (minimum 10ml adults; 5ml children; 1ml neonates) or DNA (minimum of 5µg)to:
Prof. S. Ellard, Molecular Genetics Laboratory, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW
Please include samples from both parents whenever possible –whether affected or unaffected
Consultant Molecular Geneticist: Prof S. Ellard ( or tel: +44 (0)1392 408259)
For clinical advice please contact Prof Khalid Hussain by e-mail or tel: +44 (0)207 9052128
Please complete formelectronically, e-mail to and send a printed copy with the samples
Patient details
SURNAME: / CLINICIAN NAME:FORENAME: / CLINICIAN E-MAIL ADDRESS FOR REPORT:
D.O.B.: (DAY/MONTH/YEAR) / HOSPITAL:
NHS/CHI Number (IF UK PATIENT): / CITY:
GENDER / COUNTRY:
ETHNIC ORIGIN / INVOICE ADDRESS:
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: / INSULIN LEVEL (mU/l) / C-PEPTIDE (pmols/l): / GLUCOSE LEVEL (mmol/l):CURRENT TREATMENT: / RESPONSIVE TO CURRENT TREATMENT? / OTHER MEDICATIONS TRIED? PLEASE GIVE DETAILS (NAME OF DRUG, DURATION TRIED):
18F-DOPA/PET CT SCAN PERFORMED?:
IF YES, FOCAL/DIFFUSE/ATYPICAL DISASE?: / PANCREATECTOMY PERFORMED?
IF YES, DID HISTOLOGY SHOW FOCAL/DIFFUSE/ATYPICAl DISEASE?
BIRTH WEIGHT: / GESTATION (WEEKS): / IUGR: / PERINATAL ASPHYXIA?:
HYPERAMMONAEMIA? (GIVE LEVEL AND NORMAL REFERENCE RANGE):
ACYL CARNITINE PROFILE? (IF ABNORMAL GIVE LEVEL AND NORMAL REFERENCE RANGE): / ANY EVIDENCE OF PROTEIN SENSITIVITY? (EPISODES OF HYPOGLYCAEMIA POST PROTEIN RICH MEALS):
IF YES, HAS A PROTEIN LOADING TEST BEEN PERFORMED?
ANY SYNDROMIC FEATURES (E.G. BECKWITH WEIDEMANN SYNDROME)? PLEASE GIVE DETAILS: / ANY OTHER MEDICAL PROBLEMS (PLEASE GIVE DETAILS)
MATERNAL PRE-ECLAMPSIA? / MATERNAL GESTATIONAL DIABETES?
Family history
ARE PARENTS RELATED? IF YES, HOW?ANY FAMILY HISTORY OF HYPOGLYCAEMIA?: (PLEASE GIVE DETAILS OF AFFECTED FAMILY MEMBERS (AGE OF ONSET, TREATMENT AND DURATION OF HYPOGLYCAEMIA):
ANY FAMILY HISTORY OF DIABETES? (PLEASE GIVE DETAILS OF AFFECTED FAMILY MEMBERS (AGE OF ONSET, TREATMENT (DIET/OHA/INSULIN) AND DURATION OF DIABETES):
IF SAMPLES FROM OTHER FAMILY MEMBERS HAVE BEEN SENT PREVIOUSLY PLEASE GIVE DETAILS:
Testing requiredIf no boxes are ticked, testing will be performed according to the clinical information provided
For current prices please use the latest version of the request form and note that a 25% overhead will be applied for non-NHS referrals.
URGENT TESTING: ABCC8 and KCNJ11mutations £900:Report issued in 1-2 weeks / 12 gene next generation sequencing test for hyperinsulinism £750
Report issued in8-12 weeks / Next generation sequencing 12 gene test only if ABCC8 and KCNJ11 or GLUD1 testing performed by the Exeter laboratory is negative (£300)
GLUD1 analysis for hyperinsulinism-hyperammonaemia syndrome £300: / LOH ANALYSIS FOR 11p15 (PARAFFIN-EMBEDDED PANCREATIC TISSUE REQUIRED + LEUKOCYTE DNA): £250
KNOWN MUTATION TEST (FOR FAMILIES WHERE A MUTATION HAS ALREADY BEEN IDENTIFIED) £100
Gene Mutation Name and date of birth of relative with mutation: Relationship to this person