Clinical utility gene cards

Unit 3 of EUROGENTEST has developed "points to consider" regarding clinical indications for genetic testing (Javaher et al. , Comm Genetics 2008; 11:75-120 - see page 118). The German Society of Human Genetics has endorsed these recommendations and started a process of developing disease-specific "indication criteria" for genetic testing, which can be found on its website http://www.gfhev.de/. In their current format and content they are intended to provide quick guidance to referers, service providers and payers. They still lack, for instance, references to primary and secondary literature.

The EUROGENTEST Steering Committee has decided to re-locate this activity to the European level. In a first step, the German guidelines, in an English translation, will temporarily be put onto the EUROGENTEST and the ESHG websites, and we are inviting for commentaries from the scientific community. In a second step, the guidelines will be re-edited so as to receive a format and content that makes them suitable for publication in the European Journal of Human Genetics.

Resources and links

^EJHG = Published in EJHG

^EJHG Indication criteria: DiGeorge syndrome, Velocardio-facial syndrome 2, Shprintzen syndrome (22q11.2, TBX1 ; 10p13-p14)

Download: Indication criteria-DGS

^EJHG Indication criteria: Ehlers-Danlos syndrome types I-VII

Download: Indication criteria-EDS

^EJHG Indication criteria: Hemochromatosis [HFE]

Download: Indication criteria-HFE

^EJHG Indication criteria: HNPCC [MLH1, MSH2, MSH6, PMS2]

Download: Indication criteria - HNPCC

^EJHG Indication criteria: Marfan-syndrome (Type 1) [FBN1]

Download: Indication criteria-MFS1

^NEW Indication criteria: Fabry disease

Download: Indication criteria - Fabry

^NEW Indication criteria: MUTYH-associated polyposis (MAP) [MUTYH]

Download: Indication criteria - MAP

^NEW Indication criteria: Williams-Beuren syndrome [7q11.23; ELN, LIMK1,GTF2I]

Download: Indication criteria - WBS

^NEW Indication criteria: Mucopolysaccharidosis type VI

Download: Indication criteria - MPSVI

^NEW Indication criteria: Familial adenomatous polyposis (FAP) and Attenuated FAP (AFAP) [APC]

Download: Indication criteria - FAP

^NEW Indication criteria: Mucopolysaccharidosis type II

Download: Indication criteria - MPSII

Indication criteria: Adrenoleukodystrophy (ALD) / Adrenomyeloneuropathy (AMN) [ABCD1]

Download: Indication criteria - ALD AMN

Indication criteria: Angelman-Syndrome (UBE3A)

Download: Indication criteria-AS

Indication criteria: Non-obstructive azoospermia, severe oligozoospermia (AZFa, AZFb, AZFc)

Download: Indication criteria-AZF

Indication criteria: Familial breast/ovary cancer [BRCA1/BRCA2]

Download: Indication criteria - BRCA

Indication criteria: Complete Androgen insensitivity (CAIS) (AR)

Download: Indication criteria-CAIS

Indication criteria: Cranio-fronto-nasal syndrome (CFNS) (EFNB1)

Download: Indication criteria-CFNS

Indication criteria: Myotonic dystrophy type 1 (DM1) (DMPK)

Download: Indication criteria-DM1

Indication criteria: Myotonic dystrophy type 2 (DM2) (ZNF9)

Download: Indication criteria-DM2

Indication criteria: Duchenne muscular dystrophy (DMD) (Dystrophin)

Download: Indication criteria-DMD

Indication criteria: Fragile X mental retardation syndrome [FMR1] - Fragile X tremor/ataxia syndrome (FXTAS) (FMR1)

Download: Indication criteria-fraX

Indication criteria: Friedreich ataxia (FRDA) [FXN]

Download: Indication criteria-FRDA

Indication criteria: Huntington disease, Chorea Huntington [HD]

Download: Indication criteria-HD

Indication criteria: HMSN / HNPP: HMSN type 1, 2, and 3 (CMT1 and 2, DSN); HNPP [PMP22; MPZ; GJB1 (CX32); MFN2]

Download: Indication criteria-HMSN HNPP

Indication criteria: Type I (classic) Lissencephaly

Download: Indication criteria - Lissencephaly

Indication criteria: Marfan syndrome type 2 (MFS2) and Loeys-Dietz syndrome (LDS) [TGFBR1 / TGFBR2]

Download: Indication criteria-MFS2 LDS

Indication criteria: Noonan syndrome [PTPN11, SOS1, RAF1, KRAS]

Download: Indication criteria - Noonan

Indication criteria: Hereditary hemorrhagic teleangiectasia / Osler-Rendu-Weber disease (HHT) [ENG, ACVRL1 (ALK1)]

Download: Indication criteria-Osler

Indication criteria: XY type gonadal dysgenesis criteria

Download: Indication criteria-XY-GonadDysgen

Indication criteria: Phenylketonuria (PKU) [PAH]

Download: Indication criteria - PKU

Indication criteria: Prader-Willi syndrome [SNRPN]

Download: Indication criteria-PWS

Indication criteria: Spinal muscular atrophy type I-IV [SMN1]

Download: Indication criteria - SMA

Indication criteria: Tuberous sclerosis (TSC) [TSC1, TSC2]

Download: Indication criteria - TSC

Last changed: 2009-12-22