Orphanet: Abteilung Molekulargenetik
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Abteilung Molekulargenetik

  • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
  • Lochhamer Str. 29
  • 82152 MARTINSRIED
  • DEUTSCHLAND
  • Status : Private for-profit
  • Telefonnr. : 49 (0)89 89 55 78 0
  • Zusätzl. Telefonnr. : -
  • Fax : 49 (0)89 89 55 78 780
  • Website
  • Kontakt
  • EUGT-Nummer : EUGTDE101794

Qualitätsmanagement

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EQA
 EQA

EQA organisiert von CF Network

CF (Cystic fibrosis)
2015, 2016, 2018

EQA organisiert von DGKL/RfB

ACE
2017
ALDOB
2017
APOB 100
2017
APOE
2017
ATP7B-C3207A
2014, 2017
Alpha-1-Proteinase-Inhibitor
2017
CETP
2017
COL1A1 Sp1
2017
CYP3A5
2017
F VII (R353Q)
2017
Faktor II 20210
2014, 2017
Faktor V (Leiden)
2014, 2017
HFE
2017
LCTC C13910T
2017
MTHFR
2014, 2017
NOD2
2017
PAI-1
2014, 2017
SQ DNA Sequencing
2017
VDR
2017

EQA organisiert von EMQN

ADPKD (Adult dominant polycystic kidney disease)
2016, 2017, 2018, 2019
AZF (Y-Chromosome microdeletions)
2016, 2017, 2017, 2018, 2019
BRAF (Molecular testing for malignant melanoma)
2016, 2017, 2018, 2019
CAH (Congenital Adrenal Hyperplasia)
2016, 2017, 2018, 2019
CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2016, 2017, 2019
Cardiac genetics - Hypertrophic cardiomyopathies
2019
Cardiac genetics - arrthymias
2019
DFNB1 (Hereditary Deafness)
2016
DM (Myotonic dystrophy)
2016, 2017, 2019
DMD (Duchenne and Becker muscular dystrophies)
2016
FAP (Familial Adenomatous Polyposis Colon Cancer)
2016, 2017, 2018, 2019
FH (Familial hypercholesterolemia - pilot scheme)
2016, 2017, 2018, 2019
FRAX (Fragile X syndrome) - full scheme
2016
Germline NGS mutation testing
2016, 2017, 2018
HBOC (Hereditary Breast and Ovarian Cancer testing)
2016, 2017, 2018, 2019
HD (Huntington disease)
2016
HFE (Hereditary hemochromatosis)
2018, 2019
HNPCC (Hereditary non-polyposis colon cancer)
2016, 2017, 2018, 2019
HRF (Hereditary Recurrent Fevers)
2016, 2017, 2018, 2019
KRAS (Molecular testing for sporadic colorectal cancer)
2016, 2017, 2018, 2019
Liquid Biopsy (pilot)
2017
Lung Cancer (NSCLC)4
2017
MEN2 (Multiple Endocrine Neoplasia Type 2)
2016, 2017, 2018, 2019
Melanoma
2017
Mitochondrial metabolic disorders
2018, 2019
Molecular testing for non small cell lung cancer
2016, 2017, 2018, 2019
Molecular testing of germline changes in BRCA genes for ovarian cancer
2017, 2019
Molecular testing of somatic changes in BRCA genes for ovarian cancer
2017, 2018, 2019
MonoDiab (Monogenic Diabetes)
2016, 2017, 2018, 2019
Multiplex oncology pilot EQA
2018
OI (Osteogenesis imperfecta)
2016, 2017, 2018, 2019
ONCOPANEL (Oncogene panel testing) - pilot scheme
2016, 2017, 2018, 2019
PKU (Phenylketonuria)
2016, 2017, 2018, 2019
POR (Porphyria)
2016, 2017, 2018, 2019
PWAS (Prader-Willi and Angelman syndromes)
2016, 2017, 2018, 2019
RB (Retinoblastoma)
2019
RYR1 related disorders
2019
SCA (Spinocerebellar ataxias)
2016, 2017, 2019
SHOX (Short stature homeobox gene testing)
2016, 2017, 2018, 2019
SMA (Spinal muscular atrophy)
2016
VHL (Von Hippel Lindau syndrome)
2017, 2018, 2019
WIL (Wilson disease)
2018, 2019

EQA organisiert von GenQA

Achondroplasia & Thanatophoric dysplasia
2018
Additional lung biomarkers
2018
BRCA
2018
BRCA testing in ovarian cancer -somatic pilot
2018
Cardiomyopathies
2018
Fabry disease
2018
NGS somatic pilot
2018
Polyposis (familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP))
2018
Rett syndrome
2018
cfDNA testing in lung cancer pilot
2018

EQA organisiert von INSTAND

Molekulargenetik SET 01 : Faktor V-Leiden
2014
Molekulargenetik SET 06 (CYP2C19)
2017
Molekulargenetik SET 06 (CYP2C9)
2017
Molekulargenetik SET 06 (TPMT)
2017
Molekulargenetik SET 06: FSHR (Asn 680 Ser)
2014
Molekulargenetik SET 06: VKORC1
2017
Molekulargenetik SET 08 : CYP2D6
2017
Molekulargenetik SET 08 : DPD exon 14 skipping
2017
Molekulargenetik SET 09 (CFTR)
2017
Molekulargenetik SET 11: Dystrophin
2017

EQA organisiert von UKNEQAS

Additional lung biomarkers (17-18)
2017
Aortopathies Gene Panel Pilot
2017
DNA Diagnostics for the Haemoglobinopathies
2014
Fabry disease
2017
HCM Gene Panel
2017
Long QT syndrome
2017
MCADD
2017
MCC & sexing
2017
NIPT for aneuploidies pilot 2017
2017
PGD 2017 Stage 1 CF
2017
PGD 2017 Stage 2 CF
2017
PGD Blastomere/Trophectoderm Array/NGS aneuploidy EQA
2017
PGD Blastomere/Trophectoderm Array/NGS chromosome rearrangement EQA
2017
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