Molecular Diagnostic Network Laboratories
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
CANADA
Dr. Lianna Kyriakopoulou
Hospital for Sick Children
Department of Paediatric Laboratory Medicine
Division of Genome Diagnostics
555 University Avenue
Toronto, Ontario
M5G 1X8
E-mail: 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
E-mail: emmanuelle.de-raucourt@aphp.fr
Co-Applicants:
Dr. Katell Peoc’h
E-mail: katell.peoch@aphp.fr
Dr. Larbi Boudaoud
E-mail: larbi.boudaoud@aphp.fr
Dr. Catherine Trichet
E-mail: 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
E-mail: 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 | |
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
E-mail: 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-Applicant:
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 | |