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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