Download Please reply to: Clinical Genetics Unit

Please submit to:
Regional Genetics Laboratory
Great Ormond Street Hospital for Children NHS Trust
Level 6, Barclay House,
37 Queen Square, London WC1N 3BH
Tel: 020 7762 6888 Fax: 020 7813 8196
PRE-TEST PROFORMA – SYNDROMIC / NON-SNDROMIC HEARING LOSS
Forename:……………………..
Surname: ………………………
DOB: ………………..
NHS#:………………………….
Local ID: ……………………….
Local family ID: …………….
Consultant: ……………………….
Hospital: ……………………
Gender: Male
Female

Test Requested (See gene lists below).
Usher syndrome genes may be requested separately, or in addition to the other genes on this panel.
They are not automatically analysed.
Syndromic Hearing Loss (including Usher genes)
£750
Non Syndromic Hearing loss genes (excluding Usher genes)
£750
Syndromic and Non Syndromic Hearing loss genes (including Usher genes)
 £800
Please contact the laboratory if other specific gene sets from this panel are required.
Note: These prices are for NHS patients. Please contact the laboratory for private and overseas
prices
Working clinical diagnosis: …………………………………………..………………………………………
Any Genes you consider likely to be causative: …………………………………………………………..
……………………..……………………………………………………………………………………………..
Previous gene tests (please list): ……………………………………………………………………………
Hearing Loss: Unilateral
Bilateral
Congenital
Prelingual
or Age of onset ………………….
Sensorineural
Conductive
 Mixed

Mild
 moderate
 Severe
 Profound
Stable
Progressive
Further details of hearing loss (e.g. frequency; if available please attach audiogram or audiological
description of findings)…………………………………………………………………………………………
.....................................................................................................................................................
Other clinical and radiological findings: Yes
No
If yes, give details: ……………………………………………………………………………………………..
………………..…………………………………………………………………………………………..
………………..…………………………………………………………………………………………..
Does the patient have a history of delay in achieving motor milestones?
Yes
No
If Yes, please state age at sitting unsupported and walking.
………………..………………………………………………………………………………………..
Version: 1.1
RGF SAB0011
Active Date:10/12/2014
Family:
Parental DNA samples enclosed?
Mother
Father
No
If not enclosed, are parental samples available?
Yes
No
Parental consanguinity:
Yes
No
Positive family history:
Yes
No
If yes to either, please provide details / attach a pedigree
…………………………………………………………………………………………………………………
…………………………………………………………………………………………………………………
LIST OF GENES IN PANEL (FOR INFORMATION ONLY):
NON-SYNDROMIC
ACTG1, ATP2B2, BDP1, CABP2, CCDC50, CEACAM16, CLDN14, COCH, COL11A2, COL4A6, CRYM,
DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, ESPN, ESRRB, EYA4, GIPC3, GJB2, GJB3, GJB6, GRHL2,
GRXCR1, HGF, ILDR1, KARS, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MIR96, MSRB3, MYH14,
MYH9, MYO15A, MYO1A, MYO3A, MYO6, OTOA, OTOF, OTOG, PNPT1, POU3F4, POU4F3, PRPS1,
PTPRQ, P2RX2, RDX, RPGR, SERPINB6, SLC17A8, SLC26A5, SLC4A11, SMPX, STRC, TECTA, TJP2,
TMC1, TMIE, TMPRSS3, TPRN, TRIOBP
SYNDROMIC:
Usher syndrome:*
BOR syndrome:
EAST (SeSAME) syndrome:
Pendred syndrome:
Chudley-McCullough syndrome:
Perrault syndrome:
Waardenburg / Piebald Trait:
Wolfram syndrome:
CDH23, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15,
PDZD7, USH1C, USH1G, USH2A
EYA1, SIX1, SIX5
KCNJ10
SLC26A4
GPSM2
LARS2, HSD17B4, HARS2, CLPP
PAX3, SOX10, MITF, SNAI2, KIT, EDNRB, EDN3
WFS1
* Note: Usher syndrome genes may be requested separately, or in addition to the other genes on this panel.
They are not automatically analysed.
Version: 1.1
RGF SAB0011
Active Date:10/12/2014