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 – PRIMARY IMMUNE DEFICIENCIES TARGETED 71 GENE PANEL

Referrals for primary immunodeficiency that is treatable by haematopoietic stem cell transplant (HSCT) or gene therapy may be eligible for HST funding.

Patient:

Forename:…………………….. Surname: ……………………… DOB: ………………..

NHS#:…………………………. Local ID: ………………………. Local family ID: …………….

Gender: Male Female Ethnicity: ……………………….

Referring Physician:

Name:…………………….. Department: ……………………… E-mail: ………………..

Fax:…………………………. Hospital /Address: ………………………………………………

Working clinical diagnosis: …………………………………………..………………………………………

…………………………………………………………………………………………………………………….

Any genes you consider likely to be causative: …………………………………………………………..

……………………..……………………………………………………………………………………………..

Age at presentation: ………………………………………………………………………………………….

Major infections: ………………………………………………………………………………………………..

Other complications/comments: …………………………………………………………………………….

Please provide any results of laboratory investigations performed:

Please indicate if the patient is receiving any of the following treatments:

Haematopoietic stem cell transplantation If yes, date of HSCT ……………………

Antibiotic Prophylaxis

IgG Replacement

Growth Factors

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):
T-B- SCID / RAG1, RAG2, DCLRE1C, ADA, PRKDC, LIG4, NHEJ1
T-B+ SCID / IL2RG, JAK3, IL7R, PTPRC, CD3D, CD3E, CD247, CORO1A
Hyper-IgM syndrome / CD40LG, CD40, AICDA, UNG
Hyper-IgE syndrome / DOCK8, STAT3
Lymphoproliferative syndromes / SH2D1A, XIAP, ITK, CD27
Combined immunodeficiencies / CD3G, PNP, ZAP70, RMRP, MAGT1, WAS
Immune dysregulation with colitis / IL10, IL10RA,IL10RB
Chronic granulomatous disease / NCF2, NCF4, CYBA, CYBB
Common variable immunodeficiency / ICOS, TNFRSF13B, LRBA
MHC class I deficiency / TAP1, TAP2, TAPBP
MHC class II deficiency / RFX5, RFXANK, RFXAP, CIITA
Activated phosphoinositide 3-kinase-δ syndrome (APDS2) / PIK3R1
Autoimmunity without lymphoproliferation / AIRE
Predominantly antibody deficiencies / BTK
MSMD / CMC / STAT1
T regulator cells genetic defects / FOXP3, STAT5A, STAT5B, ORAI1
Familial hemophagocytic lymphohistiocytosis (FHL) / PRF1, UNC13D, STX11, STXBP2
FHL syndromes with hypopigmentation / LYST, RAB27A, MYO5B, HPS1, HPS4, HPS6
Autoimmune lymphoproliferative syndrome (ALPS ) / FAS, FASLG, CASP10, CASP8, NRAS

Version: 1.2 RGF SAB0013 Active Date: 22-08-2017