Molecular Diagnostic Centres Expert Laboratory
Click here to download the MDC Document: Process for review of applications and selection of Molecular Diagnostic Centers
Click here to download the " Molecular Diagnostics Centers Network APPLICATION FORM" and the " Molecular Diagnostics Expert APPLICATION FORM"
About the Molecular Diagnostic Centres (MDC) Project of IFCC C-MD
Each MDC which is formed will represent an interface between the IFCC C-MD and clinical laboratories performing molecular diagnostic tests. The MDC concept was formulated to promote formation of an international network of molecular diagnostic laboratories and to encourage close collaboration within this network. This approach supports the IFCC-CMD's broader initiatives for excellence and international collaborations in molecular diagnostics.
Terms of reference of the MDCs
- To provide a point of contact to Molecular Diagnostic Laboratories in the analysis and/or interpretation of complex analytical/clinical scenarios.
- To participate in international studies involving the evaluation of new methodological approaches.
MDC fields of application and joining a MDC Expert Laboratory
Individuals and organizations can apply to join an MDC network by completion of an application form. There are two levels of participation, including participation as an IFCC MDC Network Member or as an IFCC MDC Expert Laboratory.
IFCC MDC Expert Laboratories will be engaged at a higher level and act as a point of reference within a special area of interest within the IFCC MDC Network. Progress reports on the activities of Expert Laboratories are submitted to the C-MD for review. Further details are available on the application form.
Examples of fields of application
- cystic fibrosis,
- haemochromatosis
- dyslipidaemias Fragile X
- pharmacogenetics
Examples of molecular oncology fields of application
- breast cancer
- melanoma
- gene amplification circulating tumour cells
- laser microdissection
- acquired rearrangements
AUSTRIA
Assoc. Prof., Dr. phil. Robert Zeillinger
Assoc. Prof. of Tumor biology
Molecular Oncology Group
Department of Obstetrics and Gynecology
Medical University of Vienna
Waehringer Guertel 18-20, 5Q
A-1090 Vienna
Austria
E-mail: robert.zeillinger@meduniwien.ac.at
Co-Applicant: Dr. Obermayr Eva
email: Eva.obermayr@meduniwien.ac.at
MDC Network Area of Interest | ||
| Examples | Specific Area |
Single-Gene Disorders | Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden | |
| Multi-Gene Disorders | Dyslipidaemias | |
| Oncology | Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing | Breast, lung, ovarian, prognostic & predictive testing; early detection |
Hematological: Bcr-Abl quantitative PCR, B and T cell clonality | ||
| Pharmacogenetics | CYP2D6, TPMT | |
| Inherited Errors of metabolism | glycogen storage disease, phenylketonuria, porphyria, Lesch-Nyhan syndrome | |
| Infectious Diseases | Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Drug resistance, Pediatric diseases | |
| Circulating cell free DNA, Circulating Tumor Cells | Noninvasive prenatal testing, prognosis testing, therapeutic response | CTC detection and molecular analysis |
| Bioinformatics and Laboratory information systems | Massively parallel sequencing data analysis, patient management algorithms, instrument interface | |
| Education | User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design | |
CANADA
Dr. Yves Giguère, MD, PhD, FRCPC
Laboratory Director, Molecular Diagnostics, Biochemistry
CHU de Québec
Université Laval
Service de biochimie médicale
Hôpital St-François d’Assise
local A2-402
10, rue de l’Espinay
Québec, QC, Canada G1L 3L5
E-mail: Yves.Giguere@crchudequebec.ulaval.ca
Co-Applicant: Dr. François Rousseau
E-mail: Francois.rousseau@fmed.ulaval.ca
MDC Network Area of Interest | ||
| Examples | Specific Area |
Single-Gene Disorders | Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden | Fragile X, Fragile E, Hemochromatosis, Cystic fibrosis, Tyrosinemia, ACCPN |
Multi-Gene Disorders | Dyslipidaemias | |
| Oncology | Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing | |
| Hematological: Bcr-Abl quantitative PCR, B and T cell clonality | ||
| Pharmacogenetics | CYP2D6, TPMT | |
| Inherited Errors of metabolism | glycogen storage disease, phenylketonuria, porphyria, Lesch-Nyhan syndrome | |
| Infectious Diseases | Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Pediatric diseases, Drug resistance genes | |
| Circulating cell free DNA | Noninvasive prenatal testing, prognostic testing, therapeutic response | NIPT |
| Bioinformatics and Laboratory information systems | Massively parallel sequencing data analysis, patient management algorithms, instrument interface | NGS data analysis |
| Education | User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design | |
| Other | NGS applied to newborn screening | |
GERMANY
Dr. Beniamin Ghebremedhin
HELIOS Klinikum Wuppertal
Witten Herdecke University
Institute for Med. Laboratory Diagnostics
Heusnerstr. 40
42283 Wuppertal
Germany
E-mail: beniam.ghebremedhin@helios-kliniken.de
Co-Applicant: Prof. Dr. med. Parviz Ahmad-Nejad
E-mail: parviz.ahmad-nejad@helios-kliniken.de
MDC Network Area of Interest | ||
| Examples | Specific Area |
Single-Gene Disorders | Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden | Fragile X, Fragile E, Hemochromatosis, Cystic fibrosis, Tyrosinemia, ACCPN |
Multi-Gene Disorders | Dyslipidaemias | Dyslipidemias |
Oncology | Solid Organ: Breast, colon, lungs, prognostic testing, therapeutic response | |
| Hematological: Bcr-Abl quantitative PCR, B and T cell clonality, etc... | ||
| Pharmacogenetics | CYP2D6, TPMT | |
| Inherited Errors of metabolism | glycogen storage disease, phenylketonuria, porphyria, Lesch-Nyhan syndrome | |
| Infectious Diseases | Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Pediatric diseases, Drug resistance | |
| Circulating cell free DNA, Circulating Tumor Cells | Noninvasive prenatal testing, prognostic testing, therapeutic response | NIPT |
| Bioinformatics and Laboratory information systems | Massively parallel sequencing data analysis, patient management algorithms, instrument interface | NGS data analysis |
| Education | User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design | |
| Other | NGS applied to newborn screening | |
GERMANY
Prof. Dr. med. Michael Neumaier
Institute for Clinical Chemistry
Medical Faculty Mannheim of the University of Heidelberg
University Hospital Mannheim
Theodor-Kutzer-Ufer 1-3
68167 Mannheim
Germany
E-mail: michael.neumaier@medma.uni-heidelberg.de
MDC Network Area of Interest | ||
| Examples | Specific Area |
Single-Gene Disorders | Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden | Hemocromatosis, Thrombophilia |
| Oncology | Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing | Molecular Oncology |
| Pharmacogenetics | CYP2D6, TPMT | |
INDIA
Dr. Tester F. Ashavaid
Consultant Biochemist
Head – Laboratory Medicine, Director
Lab Research
Department of Laboratory Medicine (Biochemistry Section)
D. Hinduja Hospital & Medical Research Centre
Lalita Girdhar Building
Veer Savarkar Marg, Mahim
Mumbai, 400016
India
E-mail: dr_tashavaid@hindujahospital.com
Co-Applicant: Dr. Camilla Rodrigues
Consultant Microbiologist
Department of Laboratory Medicine (Microbiology Section)
E-mail: dr_crodrigues@hindujahospital.com
MDC Network Area of Interest | ||
| Examples | Specific Area |
Single-Gene Disorders | Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden | Cystic Fibrosis, Spinal muscolar atrophy |
| Multi-Gene Disorders | Dyslipidaemias | |
| Oncology | Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing | EGFR, KRAS, MGMT testing |
Hematological: Bcr-Abl quantitative PCR, B and T cell clonality | ||
| Pharmacogenetics | CYP2D6, TPMT | NUDT15, TPMT, CYP2C19, CYP2C9, VKROC1, CYP4F2, CYP2D6, CYP3A5, CYP2B6 |
| Inherited Errors of metabolism | glycogen storage disease, phenylketonuria, porphyria, Lesch-Nyhan syndrome | |
| Infectious Diseases | Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Drug resistance, Pediatric diseases | Respiratory, Gastrointestinal diseases, Meningitis/Encephalitis, Hepatitis (HBV,HCV), Sexually transmitted diseases (Dengue, Chikungunya), Drug resistance - Tubercolosis, Gram Negative bacteria |
| Circulating cell free DNA, Circulating Tumor Cells | Noninvasive prenatal testing, prognosis testing, therapeutic response | CTC detection and molecular analysis |
| Bioinformatics and Laboratory information systems | Massively parallel sequencing data analysis, patient management algorithms, instrument interface | |
| Education | User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design | |
IRAN
Dr. Poopak, Behzad
Lab Director
Payvand Clinical and Specialty Laboratory
Molecular Section
Unit 4, No 174
Zafar St., Shariati Ave.
Tehran
Iran
E-mail: bpoopak@gmail.com; info@payvandlab.com.com
Co-applicant: Dr. Masoumeh Rajabi Bazel
E-mail: rajabibazl_m@yahoo.com
MDC Network Area of Interest | ||
| Examples | Specific Area |
| Single-Gene Disorders | Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden |
|
| Multi-Gene Disorders | Dyslipidaemias | |
| Oncology | Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing |
|
| Pharmacogenetics | CYP2D6, TPMT |
|
| Inherited Errors of metabolism | glycogen storage disease, phenylketonuria, porphyria, Lesch-Nyhan syndrome | |
| Infectious Diseases | Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Pediatric diseases, Drug resistance genes | ADV/ BK/ HSV/ EV/ RSV/ Corona/ Flu A & B/ JC/ MMR/ PIV/ B19/ Rota/ VZV/Bordetella Pertusis & Para pertusis/Brucella/ C. Albicans/ ch. Pneu/ H. Influ/ E. Histo/ TB/ L.mono cytogenesis/ M.peunomonia/ S.aureus/M.genitalium/ N.meningitaisis/ N.gonorae/ P.carini /peunomoniae/aures/U.parvum &Urealiticum/ Trepanema palidum/ Ch.difficile/HCV genotyping (HBV-HCV-EBV- CMV-Toxo (quantitative& qualitative) ) |
| Circulating cell free DNA | Noninvasive prenatal testing, prognostic testing, therapeutic response | Future programme |
| Bioinformatics and Laboratory information systems | Massively parallel sequencing data analysis, patient management algorithms, instrument interface | Future programme |
| Education | User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design | Involved in training of Hemato-oncology Fellow, and self training |
JAPAN
Dr. Yasunobu Yokoyama
Director
Reference Material Institute for Clinical Chemistry Standards
Omics Reference Laboratory
1-3-3, Azaminominami, Aoba-ku
Yokohama 225-0012
Japan
E-mail: y-yokoyama@reccs.net
Co-Applicant: Dr. Umemoto Hirohito
E-mail: h-umemoto@reccs.net
MDC Network Area of Interest | ||
| Examples | Specific Area |
Single-Gene Disorders | Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leide | |
Multi-Gene Disorders | Dyslipidaemias | |
Oncology | Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing | Prognostic testing |
| Hematological: Bcr-Abl quantitative PCR, B and T cell clonality | BCR-ABL 1 quantitative PCR | |
| Pharmacogenetics | CYP2D6, TPMT | |
| Inherited Errors of metabolism | glycogen storage disease, phenylketonuria, porphyria, Lesch-Nyhan syndrome | |
| Infectious Diseases | Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Pediatric diseases, Drug resistance genes | |
| Circulating cell free DNA | Noninvasive prenatal testing, prognosis testing, therapeutic response | Prognostic testing |
| Bioinformatics and Laboratory information systems | Massively parallel sequencing data analysis, patient management algorithms, instrument interface | |
| Education | User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design | |
| Reference Materials | Calibrators, Certified reference materials, Low level materials | BCR-ABL1 Calibrators, Certified referencfe materials |
| Other | Digital-PCR | |
MEXICO
Dr. Jessica Alejandra Rivera Domínguez
Carpermor
Genetics and Molecular Biology Department
Alfonso Herrera # 75
Co. San Rafael
Mexico City 06470
Mexico
Email: jessica.rivera@carpermor.com.mx
E-mail: jessicar0107@icloud.com
Co-Applicant: Dr. Griselda Elvira López Ortega
Analytical Management Operation Department
E-mail: griselda.lopez@carpermor.com.mx
MDC Network Area of Interest | ||
| Examples | Specific Area |
Single-Gene Disorders | Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden | |
Multi-Gene Disorders | Dyslipidaemias | |
| Oncology | Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing | |
Hematological: Bcr-Abl quantitative PCR, B and T cell clonality | ||
| Pharmacogenetics | CYP2D6, TPMT | |
| Inherited Errors of metabolism | glycogen storage disease, phenylketonuria, porphyria, Lesch-Nyhan syndrome | |
| Infectious Diseases | Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Pediatric diseases, Drug resistance genes | |
| Circulating cell free DNA, Circulating Tumor Cells | Noninvasive prenatal testing, prognostic testing, therapeutic response | |
| Bioinformatics and Laboratory information systems | Massively parallel sequencing data analysis, patient management algorithms, instrument interface | |
| Education | User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design | Laboratory and workflow design |
THE NETHERLANDS
Prof. Ron van Schaik
Laboratory Director
Dept. Clinical Chemistry
Erasmus University Medical Center
P.O. Box 2040
3000 CA Rotterdam
The Netherlands
E-mail: r.vanschaik@erasmusmc.nl
MDC Network Area of Interest | ||
| Examples | Specific Area |
| Pharmacogenetics | CYP2D6, TPMT | |
URUGUAY
Dr. Patricia Esperón
School of Chemistry “Universidad de la República”
Molecular Genetics Laboratory
Clinical Biochemistry Department
General Flores 2124
11800 Montevideo
Uruguay
E-mail: pesperon@fq.edu.uy; patricia.esperon@gmail.com
MDC Network Area of Interest | ||
| Examples | Specific Area |
Single-Gene Disorders | Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden | Cystic fibrosis, Factor V Leiden, PAI, MTHFR, FII Familiar, hypercholesterolemia Huntington |
| Multi-Gene Disorders | Dyslipidaemias | |
| Oncology | Solid Organ: Breast, colon, lungs, prognostic testing, therapeutic response | MSI colon cancer, Breast and colon cancer |
Hematological: Bcr-Abl quantitative PCR, B and T cell clonality | ||
| Pharmacogenetics | CYP2D6, TPMT | IL28, CYP2C9, VKOR1, CYP2C19, TPMT, UGT1A1 |
| Inherited Errors of metabolism | glycogen storage disease, phenylketonuria, porphyria, Lesch-Nyhan syndrome | MPS IV (GALNS and GLB1), galactosemia (GALT) |
| Infectious Diseases | Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Drug resistance, Pediatric diseases | |
| Circulating cell free DNA, Circulating Tumor Cells | Noninvasive prenatal testing, prognosis testing, therapeutic response | CTC detection and molecular analysis |
| Bioinformatics and Laboratory information systems | Massively parallel sequencing data analysis, patient management algorithms, instrument interface | Massively parallel sequencing data analysis, patient management algorithms |
| Education | User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design | Molecular Genetic education and laboratory training |
USA
Dr. Deborah Payne PhD, DABCC, DABMM
Vice President
American Pathology Partners
Molecular Services
6116 East Warren Avenue
Denver, CO 80222
USA
E-mail: dpayne@unipathdx.com
Co-Applicant: Dr. Jonathan Mancini
Director
E-mail: jmancini@unipathdx.com
MDC Network Area of Interest | ||
| Examples | Specific Area |
Single-Gene Disorders | Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden | |
| Multi-Gene Disorders | Dyslipidaemias | |
| Oncology | Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing | Breast, lung, ovarian, prognostic & predictive testing; early detection |
Hematological: Bcr-Abl quantitative PCR, B and T cell clonality | ||
| Pharmacogenetics | CYP2D6, TPMT | |
| Inherited Errors of metabolism | glycogen storage disease, phenylketonuria, porphyria, Lesch-Nyhan syndrome | |
| Infectious Diseases | Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Drug resistance, Pediatric diseases | Human Papillomavirus |
| Circulating cell free DNA, Circulating Tumor Cells | Noninvasive prenatal testing, prognosis testing, therapeutic response | CTC detection and molecular analysis |
| Bioinformatics and Laboratory information systems | Massively parallel sequencing data analysis, patient management algorithms, instrument interface | |
| Education | User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design | |
Pending renewal:
SPAIN
Dr. Maria Isabel Tejada
Laboratorio de Genética Molecular
Servicio de Genética
Hospital Universitario Cruces
Pza. de Cruces s/n
48903-Barakaldo (Bizkaia)
Spain
E-mail: MARIAISABEL.TEJADAMINGUEZ@osakidetza.net
MDC Network Area of Interest | ||
| Examples | Specific Area |
Single-Gene Disorders | Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden | XLID (Fragile-X, included) |
| Oncology | Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing | Hereditary Breast cancer |
UK
Dr. Colin Graham
Regional Genetics Laboratories
Regional Lipid Clinic
Belfast Health and Social Care Trust
Belfast City Hospital
Lisburn Rd.
Belfast BT97AB - UK
E-mail: colin.graham@belfasttrust.hscni.net
MDC Network Area of Interest | ||
Examples | Specific Area | |
| Multi-Gene Disorders | Dyslipidaemias | |