PLEASE RETURN THIS FORM WITH EDTA BLOOD OR DNA WHEN GENETIC TESTING IS REQUESTED
Molecular Genetic Testing for Laminopathies
Please return this form with EDTA blood (1ml minimum for neonates, 5-10ml for children and 10-20ml for adults) or DNA to
Dr S. Ellard, Molecular Genetics Laboratory, RILD Level 3, Royal Devon & Exeter NHS Foundation Trust, Barrack Road,
Exeter EX2 5DW
Consultant Molecular Geneticist: Dr S. Ellard (01392-408259 or sian.ellard@nhs.net)
Clinical Geneticist: Dr J. Rankin (01392-405722 or Julia.rankin@nhs.net)
Please complete as fully as possible and tick boxes where appropriate.
Patient details
SURNAME:
CLINICIAN NAME:
FORENAME:
TELEPHONE:
D.O.B.:
E-MAIL ADDRESS:
NHS/CHI NUMBER:
ADDRESS FOR REPORT:
GENDER:
ETHNIC ORIGIN:
PATIENT’S POSTCODE (UK ONLY):
NAME/ADDRESS FOR INVOICE:
GENETICS NUMBER:
Clinical information
AFFECTED?:
AGE AT DIAGNOSIS:
NOT CLINICALLY AFFECTED:
Main Phenotype – If necessary, tick more than one box for overlapping phenotypes
AUTOSOMAL DOMINANT EMERY DREIFUSS MUSCULAR DYSTROPHY
LIMB GIRDLE MUSCULAR DYSTROPHY
FAMILIAL DILATED CARDIOMYOPATHY
FAMILIAL PARTIAL LIPODYSTROPHY
CHARCOT MARIE TOOTH DISEASE (HEREDITARY MOTOR AND SENSORY NEUROPATHY)
MANDIBULOACRAL DYSPLASIA
RESTRICTIVE DERMOPATHY
PROGERIA:
HUTCHINSON-GILFORD PROGERIA
ATYPICAL PROGEROID SYNDROME
Muscle
MUSCLE WEAKNESS PRESENT?:
Yes
No
PATTERN OF WEAKNESS (IF PRESENT):
PROXIMAL
UPPER LIMB
AGE OF ONSET:
DISTAL
LOWER LIMB
FACIAL
RAISED CK?:
Yes
No
OTHER (PLEASE SPECIFY)
LEVEL:
Contractures
CONTRACTURES PRESENT?:
Yes
No
LOCATION:
FINGERS
ELBOW
AGE OF ONSET:
WRIST
KNEE
ACHILLES TENDON
LIMITED NECK FLEXION?
Yes
No
OTHER (PLEASE SPECIFY)
PLEASE PROVIDE DETAILS OF ANY SURGERY UNDERTAKEN FOR CONTRACTURES:
Adipose
ABNORMAL FAT DISTRIBUTION?:
Yes
No
LOSS OF SUBCUTANEOUS FAT FROM:
UPPER LIMBS
ABDOMEN
INCREASED FAT DEPOSITION ON:
FACE
AGE OF ONSET:
LOWER LIMBS
OTHER (PLEASE SPECIFY)
OTHER (PLEASE SPECIFY)
Nerve
AGE OF ONSET OF SYMPTOMS:
SENSORY SYMPTOMS?
Yes
No
DETAILS:
ABNORMAL NEUROPHYSIOLOGY?:
AXONAL NEUROPATHY
DEMYLINATING NEUROPATHY
UPPER LIMBS
LOWER LIMBS
EVIDENCE OF PERIPHERAL NEUROPATHY?:
Yes
No
ABSENT REFLEXES?:
Yes
No
AGE OF ONSET:
DETAILS:
PLEASE GIVE MORE DETAILS IF POSSIBLE:
Diabetes Mellitus
DIABETES?
Yes
No
TREATMENT:
INSULIN
AGE OF ONSET
ORAL HYPOGLYCAEMIC AGENT
DIET
BMI:
ACANTHOSIS NIGRICANS?:
Yes
No
XANTHOMATA?:
Yes
No
INSULIN RESISTANCE?:
Yes
No
HIRSUITISM?:
Yes
No
HYPERLIPIDAEMIA?:
Yes
No
Cardiac
DILATED CARODIOMYOPATHY?:
Yes
No
CARDIAC CONDUCTION ABNORMALITY?:
Yes
No
DETAILS OF CONDUCTION ABNORMALITY:
AGE AT DIAGNOSIS:
AGE AT DIAGNOSIS:
OTHER CARDIAC ABNORMALITIES:
Skeletal
PLEASE LIST ANY SKELETAL ABNORMALITIES:
Progeroid features
PLEASE LIST ANY PROGEROID FEATURES:
Other features
PLEASE LIST ANY ADDITIONAL FEATURES:
Family history (A pedigree showing clinical details of affected family members would be very helpful)
AFFECTED GRANDPARENT?
DETAILS:
AFFECTED FATHER?:
DETAILS:
AFFECTED MOTHER?:
DETAILS:
AFFECTED SIBLING(S)?:
DETAILS:
AFFECTED CHILDREN?:
DETAILS:
OTHER AFFECTED RELATIVES? (AUNTS, UNCLES, COUSINS):
DETAILS:
Test requested
LMNA GENE SEQUENCE ANALYSIS
LMNA MLPA ANALYSIS (DILATED CARDIOMYOPATHY WITH FAMILY HISTORY ONLY)
PPARG GENE SEQUENCE ANALYSIS (PARTIAL LIPODYSTROPHY WITH FAMILY HISTORY ONLY)
SIMULTANEOUS SEQUENCE ANALYSIS OF LMNA and PPARG (PARTIAL LIPODYSTRPOHY WITH FAMILY HISTORY ONLY)
ZMPSTE24 GENE SEQUENCE ANALYSIS (MANDIBULOACRAL DYSPLASIA AND RESTRICTIVE DERMOPATHY CASES ONLY)
Testing for known mutation in family member
MUTATION DETAILS:
NAME OF AFFECTED FAMILY MEMBER IN WHOM MUTATION WAS IDENTIFIED: