Orphanet: Instituto de Medicina Gen�mica
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Instituto de Medicina Genmica

  • IMEGEN - Delegacin Valencia
  • Calle Catedrtico Agustn Escardino, 9
  • 46980 PATERNA
  • SPAIN
  • Status : Private non-for-profit
  • Phone : 34 963212340
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
  • EUGT number : EUGTES227722

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

11p-Imprinting Disorder Scheme (BWS/SRS)
2018
BWS (Beckwith-Wiedemann syndrome)
2015
CAH (Congenital Adrenal Hyperplasia)
2017
CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2018
Cell-free DNA (cfDNA) for EGFR gene mutations in Lung Cancer
2018
DFNB1 (Hereditary Deafness)
2016, 2019
DMD (Duchenne and Becker muscular dystrophies)
2018
FAP (Familial Adenomatous Polyposis Colon Cancer)
2019
Germline NGS mutation testing
2015, 2016, 2017, 2018, 2019
HBOC (Hereditary Breast and Ovarian Cancer testing)
2015, 2016, 2018, 2019
HNPCC (Hereditary non-polyposis colon cancer)
2019
Mitochondrial metabolic disorders
2017
Molecular testing of germline changes in BRCA genes for ovarian cancer
2018, 2019
Molecular testing of somatic changes in BRCA genes for ovarian cancer
2018, 2019
MonoDiab (Monogenic Diabetes)
2018
OI (Osteogenesis imperfecta)
2015
PWAS (Prader-Willi and Angelman syndromes)
2016, 2017, 2018
Pharmacogenetic markers
2019
SCA (Spinocerebellar ataxias)
2016
SEQ (DNA sequencing) - Full scheme
2016, 2017, 2018, 2019
SMA (Spinal muscular atrophy)
2017
Somatic NGS mutation testing
2016, 2018
Stickler syndrome
2019
aCGH/ Microarrays
2015, 2016, 2017, 2018, 2019
ccfDNA (Cell free fetal DNA for sex determination)
2015
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.