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)