Search for a diagnostic test
Contacts
- Director of laboratory : Dr Cornelia KRAUS
- Director of department : Pr André REIS
- Professionals : Dr Cornelia KRAUS, Pr André REIS
Quality management
EQA
EQA scheme(s) organized by CF Network
CF (Cystic fibrosis)
2015, 2016, 2017, 2018, 2019, 2020
EQA scheme(s) organized by EMQN
11p-Imprinting Disorder Scheme (BWS/SRS)
2016, 2017, 2018, 2019
ADPKD (Adult dominant polycystic kidney disease)
2019
AZF (Y-Chromosome microdeletions)
2017, 2018, 2019
CMT (Charcot-Marie-Tooth disease)
2017, 2018, 2019
DFNB1 (Hereditary Deafness)
2016, 2017, 2018, 2019
FAP (Familial Adenomatous Polyposis Colon Cancer)
2017, 2018, 2019
Germline NGS mutation testing
2016, 2017
HBOC (Hereditary Breast and Ovarian Cancer testing)
2017, 2018, 2019
HD (Huntington disease)
2017, 2018, 2019
HNPCC (Hereditary non-polyposis colon cancer)
2017, 2018, 2019
HRF (Hereditary Recurrent Fevers)
2016, 2017, 2018, 2019
PWAS (Prader-Willi and Angelman syndromes)
2017, 2018, 2019
SHOX (Short stature homeobox gene testing)
2017, 2018, 2019
Additional information
Further information
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.