REPUBLIC OF TURKEY MINISTRY OF HEALTH ISTANBUL PROVINCIAL HEALTH DIRECTORATE ZEYNEP KAMİL WOMEN AND CHILDREN DISEASES TRANING AND RESEARCH HOSPITAL

Diagnostic center for genetic diseases




Diagnostic Center for Genetic Diseases

 

The Diagnostic Center for Genetic Diseases in Zeynep Kamil Women and Children's Training and Research Hospital has been serving since 1997 and is one of the leading diagnostic centers for genetic diseases in Turkey.

 

Services in 3 different areas are provided in the center:

1 - Clinical genetics and genetic counseling

2 - Cytogenetics

3 - Molecular Genetics

 

Cytogenetic Tests

 - Peripheral blood chromosome analysis

 - Chromosome analysis from amniotic fluid

 - Chromosome analysis from fetal blood (cordocentesis)

 - Chromosome analysis from skin biopsy

 - Chromosome analysis from bone marrow

 - Chromosome analysis from chorionic villus sampling (CVS)

 - Fluorescent in situ Hybridization (FISH) tests for SRY, 13, 18, 21, X and Y numerical chromosomal abnormalities, and various conditions such as Angelman Syndrome, Prader-Willi Syndrome, DiGeorge Syndrome / VCFS.

 

Molecular Tests

 -MEFV mutation analysis for Familial Mediterranean Fever (FMF)

 -Thrombophilia panel:

          FACTOR II mutation analysis

          FACTOR V Leiden mutation analysis

          MTHFR C677T mutation analysis

          MTHFR A1298C mutation analysis

           PAI mutation analysis

-Microarray

 In addition, several other molecular tests are conducted at our center.

 

Personnel

Ali Karaman, MD. Prof (Associate) (Head of Unit)

Kubra Ermiş Tekkuş, MD.

Sevil Güngörmüş, Bio.

Zeynep Eldem Yilmaz, Bio.

Cem Murat Kızıldeli, Bio.

Emine Ekin Akgün, Bio.

Nurettin Fırat Kılıç, Bio.

 

Our Contact Information

Address: Fahri Atabey Cad. Zeynep Kamil Mah. Uskudar - Istanbul

Phone: 0216 391 06 80 -1301 (Laboratory) / -1303 (Clinic)