• 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 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.
  
  Comments should be sent to Prof. Jörg Schmidtke:
  Schmidtke.Joerg(at)mh-hannover.de
   
   
• Resources and links
  (click on the title to download the related document)

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

Indication criteria: Angelman-Syndrome (UBE3A)

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

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

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

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

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

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

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

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

Indication criteria: Ehlers-Danlos syndrome types I-VII

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

Indication criteria: Friedreich ataxia (FRDA) [FXN]

Indication criteria: Huntington disease, Chorea Huntington [HD]
<link fileadmin www.eshg.org documents indications external-link-new-window external link in new>
Indication criteria: Hemochromatosis [HFE]

Indication criteria: HMSN/HNPP HMSN types 1,2,3,6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP. (HSAN and HMN not included.)

Indication criteria: HNPCC / Lynch syndrome [MLH1, MSH2, MSH6, PMS2]

Indication criteria: Type I (classic) Lissencephaly

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

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

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

<link fileadmin www.eshg.org documents indications indication criteria osler.pdf> Indication criteria: Hereditary hemorrhagic teleangiectasia / Osler-Rendu-Weber disease (HHT) [ENG, ACVRL1 (ALK1)]
<link fileadmin www.eshg.org documents indications indication criteria pku.pdf>
Indication criteria: Phenylketonuria (PKU) [PAH]

Indication criteria: Prader-Willi syndrome [SNRPN]

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

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

Indication criteria: XY type gonadal dysgenesis criteria

Most recent additions

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

Indication criteria: Fabry Disease

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

Indication criteria: Mucopolysaccharidosis type II

Indication criteria: Mucopolysaccharidosis type VI

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