Clinical utility gene cards

Unit 3 of EUROGENTEST has developed "points to consider" regarding clinical indications for genetic testing and is inviting for commentaries from the scientific community.

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 contents that makes them suitable for publication in the European Journal of Human Genetics.

Resources and links

Indication criteria: Angelman-Syndrome (UBE3A)

Download: Indication_criteria_-_AS.pdf

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

Download: Indication_criteria_-_AZF.pdf

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

Download: Indication_criteria_-_CAIS.pdf

Indication criteria: Congenital bilateral aplasia of vas deferens (CBAVD) (CFTR)

Download: Indication_criteria_-_CBAVD.pdf

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

Download: Indication_criteria_-_CFNS.pdf

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

Download: Indication_criteria_-_DGS.pdf

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

Download: Indication_criteria_-_DM1.pdf

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

Download: Indication_criteria_-_DM2.pdf

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

Download: Indication_criteria_-_DMD.pdf

Indication criteria: Ehlers-Danlos syndrome types I-VII

Download: Indication_criteria_-_EDS.pdf

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

Download: Indication_criteria_-_fraX.pdf

Indication criteria: Friedreich ataxia (FRDA) [FXN]

Download: Indication_criteria_-_FRDA.pdf

Indication criteria: Huntington disease, Chorea Huntington [HD]

Download: Indication_criteria_-_HD.pdf

Indication criteria: Hemochromatosis [HFE]

Download: Indication_criteria_-_HFE.pdf

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.pdf

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

Download: Indication_criteria_-_MFS1.pdf

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

Download: Indication_criteria_-_MFS2_LDS.pdf

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

Download: Indication_criteria_-_Osler.pdf

Indication criteria: XY type gonadal dysgenesis criteria

Download: Indication_criteria_-_XY-GonadDysgen.pdf

Indication criteria: Prader-Willi syndrome [SNRPN]

Download: Indication_criteria_-_PWS.pdf