Advancing excellence in laboratory medicine for better healthcare worldwide

Molecular Diagnostic Network Laboratories

 

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. Zeillinger Robert

Assoc. Prof. of Tumor Biology
Molecular Oncology Group
Department of Obstetrics and Gynecology
Medical University of Vienna
Waehringer Guertel 18-20
Leitstelle 5Q
A-1090 Vienna
Austria
Email: robert.zeillinger@meduniwien.ac.at

Co-applicant: Dr. nat. techn. 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

 
  Circulating Tumor Cells, Circulating cell free DNA CTC detection and molecular analysis
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 cell free DNA, Massively parallel sequencing data analysis for cell free DNA, Noninvasive prenatal testing  
Bioinformatics and Laboratory information systems Massively parallel sequencing data analysis, patient management algorithms, instrument interface  
External Quality Assessment Proficiency testing, alternate assessment (specimen exchange)  
Reference Materials Reference Materials  

 

CANADA

Dr. Lianna Kyriakopoulou 

Hospital for Sick Children
Department of Paediatric Laboratory Medicine
Division of Genome Diagnostics
555 University Avenue
Toronto,  Ontario
M5G 1X8
email: Lianna.kyriakopoulou@sickkids.ca

 

MDC Network Area of Interest

 

Examples

Specific Area

Single-Gene Disorders

Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden

CF, FRX Beckwith-Wiedeman, Angelman, achndroplasia, 22q11.2 deletion, DMD, dopamine beta-hydroxylase, cherubism, CHARGE, Caffey, BOR syndrome, BMT, X-chromosome inactivation, thanatophoric dysplasia, Trismus-pseudocamptomegaly, SMA, SMB, Simpson Golabi, SBDS, Russel Silver, retinoblastoma, Prader Willi, DFN3/4,Li-Fraumeni, Hunter, Noonan, Neurofibromatosis, HLH MAS, arrhythmic right venricular cardiomyopathy, connective tissue, craniosynostosis, congenital muscular dystrophies, complement based renal disease, NCL, mitochondrial hearing loss, hereditary spastic paraplegia, hereditary hemorrhagic telangiectasia, USHER, Stickler, hereditary hearing loss (9 genes), non-syndromic hearing loss, focal segmental glomerulosclerosis 

Multi-Gene Disorders

Dyslipidaemias

 
Oncology Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing  
  Hematological: Bcr-Abl quantitative PCR, B and T cell clonality  
  Circulating Tumor Cells, Circulating cell free DNA  
Pharmacogenetics Pharmacogenetics  
Inherited Errors of metabolism glycogen storage disease, phenylketonuria, porphyria,  Lesch-Nyhan syndrome Hunter, Fabry, Gaucher, CLN, mitochondrial,hearing loss, (WES) exome sequencing
Infectious Diseases Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Pediatric diseases, Drug resistance genes  
Circulating cell free DNA Circulating cell free DNA, Massively parallel sequencing data analysis for cell free DNA, Noninvasive prenatal testing  
Bioinformatics and Laboratory information systems Massively parallel sequencing data analysis, patient management algorithms, instrument interface  
External Quality Assessment Proficiency testing, alternate assessment (specimen exchange)  
Reference Materials Calibrators, Certified reference materials, Low level materials  
Education User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design  

 

FRANCE

Dr. Emmanuelle DeRaucourt

APHP, HUPNVS, Beaujon
Hématologie Biologique
100, bd du Général Leclerc
92118 Clichy Cédex
France
Email: emmanuelle.de-raucourt@aphp.fr


Co-Applicants:
Dr. Katell Peoc’h
email: katell.peoch@aphp.fr
Dr. Larbi Boudaoud
email: larbi.boudaoud@aphp.fr
Dr. Catherine Trichet
email: Catherine.trichet@aphp.fr

 

 

MDC Network Area of Interest

 

Examples

Specific Area

Single-Gene Disorders

Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leide

Hemostasis disorders

Multi-Gene Disorders

Dyslipidaemias

 

Oncology

Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing

 

  Hematological: Bcr-Abl quantitative PCR, B and T cell clonality  Jak2 mutations
  Circulating Tumor Cells, Circulating cell free DNA  
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 cell free DNA, Massively parallel sequencing data analysis for cell free DNA, Noninvasive prenatal testing  
Bioinformatics and Laboratory information systems Massively parallel sequencing data analysis, patient management algorithms, instrument interface  
External Quality Assessment  Proficiency testing, alternate assessment (specimen exchange)  
Reference Materials  Calibrators, Certified reference materials, Low level materials  
 Education User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design  X (Anticoagulants clinic)

 

HONG KONG 

Dr. Chan, On Kei Angel

Division of Clinical Biochemistry 
Department of Pathology & Clinical Biochemistry 
LG1, Block K 
Queen Mary Hospital 
102 Pokfulam Road
Hong Kong
Email: cok436@ha.org.hk 


Co-Applicant: Dr. Chung Him See
E-mail:  sch121@ha.org.hk 

 

MDC Network Area of Interest

 

Examples

Specific Area

Single-Gene Disorders

Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden

Neurological disorders, congenital myopathies, mitochondrial diseases, inherited endocrinolopathies, disorders of sex development

Multi-Gene Disorders

Dyslipidaemias

 

Oncology

Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing

 
 

Hematological: Bcr-Abl quantitative PCR, B and T cell clonality

 
  Circulating Tumor Cells, Circulating cell free DNA  
 Pharmacogenetics  CYP2D6, TPMT  
Inherited Errors of metabolism glycogen storage disease, phenylketonuria, porphyria,  Lesch-Nyhan syndrome  Congenital adrenal hyperplasia, steroid metabolic diseases, amino acid disorders, organic acid disorders
Infectious Diseases Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Pediatric diseases, Drug resistance genes  
Circulating cell free DNA Circulating cell free DNA, Massively parallel sequencing data analysis for cell free DNA, Noninvasive prenatal testing  
Bioinformatics and Laboratory information systems Massively parallel sequencing data analysis, patient management algorithms, instrument interface  

 

IRAN

Dr. Poopak, Behzad

Payvand Clinical and Specialty Laboratory
Unit 4, No 174, Vahid Dastgerd (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))
   Hematological: Bcr-Abl quantitative PCR, B and T cell clonality

- CML (BCR-ABL: qualitative & quantitative) 

- IgK & IgH gene rearrangement for clonality in Leukemia & Lymphoma

  • - CLL (IgHV mutation
  Circulating Tumor Cells, Circulating cell free DNA  On developing
 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 Circulating cell free DNA, Massively parallel sequencing data analysis for cell free DNA, Noninvasive prenatal testing Future programme
  Massively parallel sequencing data analysis, patient management algorithms, instrument interface Future programme
External Quality Assessment Proficiency testing, alternate assessment (specimen exchange) EQAP/ Inter Lab double checking
Reference Materials Calibrators, Certified reference materials, Low level materials All controls & for quantitative BCR-ABL; calibrator
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

   

MEXICO

Dr. Rivera Dominguez Jessica Alejandra
Carpermor
Genomics and Molecular Biology
Alfonso Herrera # 75
Col. San Rafael
Mexico City 06470
Mexico
email jessica.rivera@carpermor.com.mx


Co-Applicants:
Q.F.B. Griselda Elvira López Ortega
e-mail: griselda.lopez@carpermor.com.mx
Q.F.B. Ruíz Monroy Nataly Montserrat
e-mail: nataly.ruiz@carpermor.com.mx
Q.F.B. Luz Elena Alcantara Gómez
e-mail: luz.alcantara@carpermor.com.mx

 

MDC Network Area of Interest

 

Examples

Specific Area

Single-Gene Disorders

Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden

 

Oncology

Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing

 
 

Hematological: Bcr-Abl quantitative PCR, B and T cell clonality

 
Pharmacogenetics

CYP2D6, TPMT

 
Infectious Diseases

Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Pediatric diseases, Drug resistance genes

 
Circulating cell free DNA

Circulating cell free DNA, Massively parallel sequencing data analysis for cell free DNA, Noninvasive prenatal testing

 
Bioinformatics and Laboratory information systems

Massively parallel sequencing data analysis, patient management algorithms, instrument interface

 
External Quality Assessment

Proficiency testing, alternate assessment (specimen exchange)

 
Reference Materials

Calibrators, Certified reference materials, Low level materials

 
Education

User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design

Laboratory and workflow design

 

PARAGUAY

Dr. Russomando Graciela

Head of Department
Molecular Biology and Biotechnology Department
Instituto de Investigaciones en Ciencias de la Salud
Universidad Nacional de Asuncion, Campus Universitario
Dr Cecilio Baez c/ Dr Gaspar Villamayor
San Lorenzo, Po Box 2160
Paraguay
email grusso@rieder.net.py

 

 

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, colon, lungs, therapeutic response, prognostic testing
 

Hematological: Bcr-Abl quantitative PCR, B and T cell clonality

 
 

Circulating Tumor Cells, Circulating cell free DNA

Circulating Tumor Cells, Circulating cell free DNA
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

 Children and adults health. , Respiratory diseases, Meningitis/Encephalitis, Gastrointestinal diseases, Tropical diseases, Drug resistance genes
Circulating cell free DNA

Circulating cell free DNA, Massively parallel sequencing data analysis for cell free DNA, Noninvasive prenatal testing

 
Bioinformatics and Laboratory information systems

Massively parallel sequencing data analysis, patient management algorithms, instrument interface

 
External Quality Assessment

Proficiency testing, alternate assessment (specimen exchange)

 
Reference Materials

Calibrators, Certified reference materials, Low level materials

 
Education

User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design

Laboratory and workflow design

 

TURKEY

Dr. Guzel Mine

Biruni Genetic Diseases Diagnostic Center 
Gursel Mahallesi Kagithane Caddesi No:14/1
Kagithane / Istanbul / Turkey
email mguzel@biruni.com.tr
Co-Applicants
Akcay Tan, Remin
e-mail: rakcaytan@biruni.com.tr

 

 

MDC Network Area of Interest

 

Examples

Specific Area

Single-Gene Disorders

Hemochromatosis, Fragile X, Cystic Fibrosis, Factor V Leiden

 

Oncology

Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing

 
 

Hematological: Bcr-Abl quantitative PCR, B and T cell clonality

 
Pharmacogenetics

CYP2D6, TPMT

 
Infectious Diseases

Sexually transmitted diseases, Respiratory diseases, Meningitis/Encephalitis, Hepatitis, Gastrointestinal diseases, Tropical diseases, Pediatric diseases, Drug resistance genes

 
Circulating cell free DNA

Circulating cell free DNA, Massively parallel sequencing data analysis for cell free DNA, Noninvasive prenatal testing

 

 

URUGUAY

Dr. Patricia Esperon

Associate Professor
Head of Molecular Genetics Laboratory
Facultad de Quimica Universidad de la Republica
Clinical Biochemistry
General Flores 2124
11800
Montevideo Uruguay
email pesperon@fq.edu.uy


Co-Applicants:
Dr. Marcelo Vital
Dr. Carolina Vergara

 

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

Familial hypercholesterolemia

Huntington

Multi-Gene Disorders

Dyslipidaemias

 
Oncology

Solid Organ: Breast, colon, lungs, therapeutic response, prognostic testing

 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, Pediatric diseases, Drug resistance genes

 
Circulating cell free DNA

Circulating cell free DNA, Massively parallel sequencing data analysis for cell free DNA, Noninvasive prenatal testing

 Noninvasive prenatal testing, prognostic testing, therapeutic response
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. Payne, Deborah “Debs”

Vice President
American Pathology Partners
Molecular Services
6116 East Warren Avenue
Denver, CO - 80222
USA
email: Debs_payne@yahoo.com


Co-Applicant:
Mr. Jonathan Mancini
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

 
 

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

 Human Papillomavirus
Circulating cell free DNA

Circulating cell free DNA, Massively parallel sequencing data analysis for cell free DNA, Noninvasive prenatal testing

 
Bioinformatics and Laboratory information systems

Massively parallel sequencing data analysis, patient management algorithms, instrument interface

 
External Quality Assessment

Proficiency testing, alternate assessment (specimen exchange)

 
Reference Materials

Calibrators, Certified reference materials, Low level materials

 
Education

User education i.e. website, health care provider (example, nurse and doctor education), Laboratory and workflow design

Laboratory and workflow design

 

 
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