PLEASE RETURN THIS FORM WITH DNA OR EDTA BLOOD WHEN GENETIC TESTING IS REQUESTED
Exome Sequencing Request Form
Sample requirements: Please send DNA (minimum 10µg) or EDTA blood (1ml minimum for neonates, 5-10ml for children and 1020ml for adults) to: Prof. S. Ellard, Molecular Genetics Laboratory, RILD level 3, Royal Devon & Exeter NHS Foundation Trust,
Barrack Road, Exeter EX2 5DW
Consultant Molecular Geneticist: Professor S. Ellard (01392 408259 or Sian.Ellard@nhs.net)
Please see our website for current prices: http://www.exeterlaboratory.com/genetics/exome-sequencing/
Please complete form electronically and send a printed copy with the sample(s)
Patient details:
SURNAME:
CLINICIAN NAME:
FORENAME:
TELEPHONE:
D.O.B.:
E-MAIL ADDRESS FOR REPORT (nhs.net):
CLINICAL GENETICS NUMBER:
ADDRESS FOR REPORT:
ADDRESS FOR INVOICE:
NHS NUMBER:
GENDER:
ALIVE/DECEASED:
CLINICAL DETAILS AND FAMILY HISTORY (PLEASE INCLUDE KEY PHENOTYPIC TERMS AND A PEDIGREE WHERE POSSIBLE.):
Has this case been discussed with the Exeter team? YES/NO
Parent details (if applicable):
MOTHER’S SURNAME:
MOTHER’S FORENAME:
MOTHER’S D.O.B:
FATHER’S SURNAME:
FATHER’S FORENAME:
FATHER’S D.O.B
Testing strategy:
Rare Disease Exome - RDExome (Agilent Focussed exome)
The RDExome includes a subset of ~6000 known disease genes
Full exome (Agilent v5)
Single Exome:
Sequencing of the proband only.
Lethal autosomal recessive strategy:
Sequencing of the parental samples followed by cosegregation analysis in
affected fetus/es.
Trio analysis:
Sequencing of the proband and unaffected, unrelated parents for likely de
novo mutations.
Other (please provide details):
Single Exome:
Sequencing of the proband only.
Lethal autosomal recessive strategy:
Sequencing of the parental samples followed by cosegregation analysis in
affected fetus/es.
Trio analysis:
Sequencing of the proband and unaffected, unrelated parents for likely de
novo mutations.
Other (please provide details):
IF REQUIRED, PLEASE INCLUDE A LIST OF GENES TO BE INCLUDED IN THE ANALYSIS:
OTHER INFORMATION: