Scientific Division

Molecular Diagnostic Centres Expert Laboratory

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. Beniam Ghebremedhin
HELIOS Universitätsklinikum 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	Antibiotic Resistance Testing (e.g.MRSA/VRE/ESBL)
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	Thrombophilia Panel HFE(C282y-H63D) Celiac JakV617F BRAFV600E
Multi-Gene Disorders	Dyslipidaemias
Oncology	Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing	Myelofibrosis & ET(Jak2/MPL/Cal) HES (FIP1L1-PDGFRα) Hairy Cell Leukemia Melanoma (BRAF) Colorectal cancers(KRAS/BRAF- NRAS) Lung (KRAS/ALK/EGFR) ALL translocation: (qualitative &quantitative) AML (translocations: (qualitative &quantitative) Mantel Cell t(11;14) Folicular Lymphoma t(14;18) Neuroblastoma (N-MYC Amplification) Sarcoma (Ewing & Rhabdomyo) translocations Synovial sarcoma (t(x;18)) CML (BCR-ABL: qualitative & quantitative) IgK & IgH gene rearrangement for clonality in Leukemia & Lymphoma CLL (IgHV mutation)
Pharmacogenetics	CYP2D6, TPMT	DPYD, ABL-Kinase, CRC Panel, 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

ISRAEL

Dr. Tali Tohami
Head of Hematology Laboratory
Meir Medical Center
Medical Laboratories
Tchernichovsky 59
Kfar Saba
Israel
E-mail: Tohami.tali@clalit.org.il

Co-Applicant: Dr. Gloria Rashid

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