Ethnic Origin

Surname: Sex: M F First Name: Ethnic origin: Previous Name: Hospital number: DOB: PRU Number: Address: Post code: Private patient (please NHS Number attach (Mandatory): invoicing details): GP name: GP Post code: Consultant: Referring Hospital: Full address for returning report including Department: Signed: Date: Name (print) Email: Invoice address if different from referral address: Samples please ensure specimens are dispatched to the laboratory promptly after sampling Blood in potassium EDTA (DNA / MLPA / array CGH) Blood in lithium heparin (Chromosome rearrangements / Biochemical Genetics) Prenatal sample Please CVS AF POC tick one: Other – Please state Tests requested Clinical Details Please include full details of patient, with pedigree if relevant) NB For testing for NB For testing for chromosome imbalance (array CGH/chromosome analysis), please provide clinical details on the reverse of chromosome this form. imbalance (array CGH/chromosome analysis), please provide clinical details on the reverse of this form.

In submitting this Has this case been discussed with the Genetics Department? If so, with whom? sample, the clinician confirms that consent Is the patient pregnant? has been obtained: (a) for testing and If YES: how many weeks gestation? possible storage (b) for the use of this sample and the information generated from it to be shared with members of the donor’s family and their health professionals (if appropriate). (c) we assume that

Issued by J. May & R. Hall 15/05/2017 Page 1 of 3 MF-G-4 Version 7 consent has been obtained for sensitive disposal of any fetal remains unless otherwise stated. Please do NOT send the consent form All fields above are mandatory. Samples supplied with inadequate or illegible information, will be subject to delay or rejection.

For Departmental use only

NHS Number: CLINICAL INFORMATION – for chromosome imbalance testing Place an X in the box if statement applies to the subject.

1 Cognitive Typical Develo Delay (Atypical) pment Mild (IQ 50-69; for adults mental age 9-12 yrs) Mod (IQ 35-49; for adults mental age 6-9 yrs) Severe (IQ 20-34; for adults mental age 3-6 years) Profound (IQ <20; for adults mental age <3 years)

2 Specific Develo pmenta Speech and language Reading and spelling Arithmetic Motor Skills l Disorde r Autistic Spectrum 3 Yes No Neurod Disorder evelop ADHD Yes No mental Tics Yes No /Behavi oral Sleep Yes No Proble Feeding Yes No ms Psychosis Yes No Other behavioral Yes No problems 4 Neurological Vision Hearing Abnormal tone/involuntary movements Structural brain lesion Disorde Cerebral Palsy Unilateral Cerebral Palsy Bilateral rs Epilepsy Age of onset <3 months 3-24 months > 24 months

5 Growth At birth Small for gestational age (<10th Abnorm Yes No alities centile)

At birth Large for gestational age (>90th Yes No centile) Current: Tall stature (height Yes No >95th centile) Short Stature (height Yes No < 5th centile) Macrocephaly (>95th Yes No centile) Microcephaly (<5th Yes No centile)

Issued by J. May & R. Hall 15/05/2017 Page 2 of 3 MF-G-4 Version 7 Heart disease (e.g. 6 Congenital Yes No Malfor ASD, VSD) Renal and Urogenital mation Yes No s/Dysm malformations orphis Brain Malformations Yes No m Eye malformations (e.g. anophthalmia, Yes No microphthalmia) Ear malformations Yes No Cleft lip Cleft palate

Micrognathia Yes No Limb abnormalities (e.g. short or long Yes No bones) Digital abnormalities (e.g. syndactyly, Yes No polydactyly) Facial dysmorphism Yes No e.g. hypertelorism 7 Endocrine and metabolic Yes No conditions 8 Cutaneous stigmata/skin Yes No lesions 9 Hair, nail, teeth Yes No abnormalities 10 Other Skeletal abnormalities eg Yes No scoliosis

Issued by J. May & R. Hall 15/05/2017 Page 3 of 3 MF-G-4 Version 7