Orphanet: Institut für Humangenetik
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Institut fr Humangenetik

  • Universittsmedizin Mainz
  • Langenbeckstr. 1
  • 55131 MAINZ
  • GERMANY
  • Status : Public
  • Phone : 49 (0)6131 17 3871
  • Additional Phone : -
  • Fax : 49 (0)6131 17 5690
  • Website
  • EUGT number : EUGTDE171107

Contacts

Quality management

Accreditation
 Accreditation

Accreditation
Organism
Year
Accreditation scope

EQA
 EQA

EQA scheme(s) organized by EMQN

AZF (Y-Chromosome microdeletions)
2017
CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2017, 2019
DFNB1 (Hereditary Deafness)
2016, 2017, 2018, 2019
FAP (Familial Adenomatous Polyposis Colon Cancer)
2016, 2017, 2018, 2019
FRAX (Fragile X syndrome) - full scheme
2016, 2017, 2018, 2019
HBOC (Hereditary Breast and Ovarian Cancer testing)
2016, 2017, 2018, 2019
HD (Huntington disease)
2016, 2017, 2018, 2019
HNPCC (Hereditary non-polyposis colon cancer)
2016, 2017, 2018, 2019
Mitochondrial metabolic disorders
2018, 2019
PWAS (Prader-Willi and Angelman syndromes)
2016, 2018
SEQ (DNA sequencing) - Full scheme
2016, 2017, 2018
SHOX (Short stature homeobox gene testing)
2017, 2019
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.