Advancing excellence in laboratory medicine for better healthcare worldwide

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

PharmacogeneticsCYP2D6, TPMT
Inherited Errors of metabolismglycogen storage disease, phenylketonuria, porphyria,  Lesch-Nyhan syndrome
Infectious DiseasesSexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Drug resistance, Pediatric diseases
Circulating cell free DNA, Circulating Tumor CellsNoninvasive prenatal testing, prognosis testing, therapeutic responseCTC detection and molecular analysis
Bioinformatics and Laboratory information systemsMassively parallel sequencing data analysis, patient management algorithms, instrument interface
EducationUser 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

OncologySolid Organ: Breast, colon, lungs, therapeutic response, prognostic testing
Hematological: Bcr-Abl quantitative PCR, B and T cell clonality
PharmacogeneticsCYP2D6, TPMT
Inherited Errors of metabolismglycogen storage disease, phenylketonuria, porphyria,  Lesch-Nyhan syndrome
Infectious DiseasesSexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Pediatric diseases, Drug resistance genes
Circulating cell free DNANoninvasive prenatal testing, prognostic testing, therapeutic responseNIPT
Bioinformatics and Laboratory information systemsMassively parallel sequencing data analysis, patient management algorithms, instrument interfaceNGS data analysis
EducationUser education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design
OtherNGS 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...
PharmacogeneticsCYP2D6, TPMT
Inherited Errors of metabolismglycogen storage disease, phenylketonuria, porphyria,  Lesch-Nyhan syndrome
Infectious DiseasesSexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Pediatric diseases, Drug resistance
Circulating cell free DNA, Circulating Tumor CellsNoninvasive prenatal testing, prognostic testing, therapeutic responseNIPT
Bioinformatics and Laboratory information systemsMassively parallel sequencing data analysis, patient management algorithms, instrument interfaceNGS data analysis
EducationUser education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design
OtherNGS 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

PharmacogeneticsCYP2D6, TPMTNUDT15, TPMT, CYP2C19, CYP2C9, VKROC1, CYP4F2, CYP2D6, CYP3A5, CYP2B6
Inherited Errors of metabolismglycogen storage disease, phenylketonuria, porphyria,  Lesch-Nyhan syndrome
Infectious DiseasesSexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Drug resistance, Pediatric diseasesRespiratory, Gastrointestinal diseases, Meningitis/Encephalitis, Hepatitis (HBV,HCV), Sexually transmitted diseases (Dengue, Chikungunya), Drug resistance - Tubercolosis, Gram Negative bacteria
Circulating cell free DNA, Circulating Tumor CellsNoninvasive prenatal testing, prognosis testing, therapeutic responseCTC detection and molecular analysis
Bioinformatics and Laboratory information systemsMassively parallel sequencing data analysis, patient management algorithms, instrument interface
EducationUser 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 DisordersHemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden
  • Thrombophilia Panel
  • HFE(C282y-H63D)
  • Celiac
  • JakV617F
  • BRAFV600E
Multi-Gene DisordersDyslipidaemias
OncologySolid 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)
PharmacogeneticsCYP2D6, TPMT
  • DPYD,
  • ABL-Kinase,
  • CRC Panel,
  • CYP2D6,
  • TPMT
Inherited Errors of metabolismglycogen storage disease, phenylketonuria, porphyria,  Lesch-Nyhan syndrome
Infectious DiseasesSexually 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 DNANoninvasive prenatal testing, prognostic testing, therapeutic  responseFuture programme
Bioinformatics and Laboratory information systemsMassively parallel sequencing data analysis, patient management algorithms, instrument interfaceFuture programme
EducationUser education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow designInvolved 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 clonalityBCR-ABL 1 quantitative PCR
PharmacogeneticsCYP2D6, TPMT
Inherited Errors of metabolismglycogen storage disease, phenylketonuria, porphyria,  Lesch-Nyhan syndrome
Infectious DiseasesSexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Pediatric diseases, Drug resistance genes
Circulating cell free DNANoninvasive prenatal testing, prognosis testing, therapeutic responsePrognostic testing
Bioinformatics and Laboratory information systemsMassively parallel sequencing data analysis, patient management algorithms, instrument interface
EducationUser education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design
Reference MaterialsCalibrators, Certified reference materials, Low level materialsBCR-ABL1 Calibrators, Certified referencfe materials
OtherDigital-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

PharmacogeneticsCYP2D6, 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

PharmacogeneticsCYP2D6, TPMTIL28, CYP2C9, VKOR1, CYP2C19, TPMT, UGT1A1
Inherited Errors of metabolismglycogen storage disease, phenylketonuria, porphyria,  Lesch-Nyhan syndromeMPS IV (GALNS and GLB1), galactosemia (GALT)
Infectious DiseasesSexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Drug resistance, Pediatric diseases
Circulating cell free DNA, Circulating Tumor CellsNoninvasive prenatal testing, prognosis testing, therapeutic responseCTC detection and molecular analysis
Bioinformatics and Laboratory information systemsMassively parallel sequencing data analysis, patient management algorithms, instrument interfaceMassively parallel sequencing data analysis, patient management algorithms 
EducationUser education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow designMolecular 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

PharmacogeneticsCYP2D6, TPMT
Inherited Errors of metabolismglycogen storage disease, phenylketonuria, porphyria,  Lesch-Nyhan syndrome
Infectious DiseasesSexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Drug resistance, Pediatric diseasesHuman Papillomavirus
Circulating cell free DNA, Circulating Tumor CellsNoninvasive prenatal testing, prognosis testing, therapeutic responseCTC detection and molecular analysis
Bioinformatics and Laboratory information systemsMassively parallel sequencing data analysis, patient management algorithms, instrument interface
EducationUser 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)

OncologySolid 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 DisordersDyslipidaemias

 
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