Practice Research

Routine Laboratory Services of The Department

Routien Cytogenetic Diagnosis

• Prenatal diagnosis (from amnion liquid, chord blood and CVS sample)

• Postnatal diagnosis (from peripheric venous blood sample)

• Postmortem diagnosis (from abortion material, skin, plasenta material, chord and intracardiac blood samples)

Routien Molecular-Cytogenetic Diagnosis

• Diagnosis of aneuploidies (Trisomy 13, Trisomy 18, Trisomy 21 and XY) seen frequently after direct preparation from amnion liquid and CVS samples.

• Diagnosis of microdeletion syndromes from peripheric venous blood samples and other tissue samples:

1. Prader-Willli syndrome

2. Angelman syndrome

3. Di George- Velocardiofasial syndrome

4. Williams-Beuren syndrome

5. Wolf-Hirschorn syndrome

6. Cri-Du-Chat syndrome

7. 1p36 delesyon syndrome

• The detection of mosaic aneuploidies from different tissue samples

• The detection of all chromosomes’ subtelomeric reorganisation

Routine Molecular Genetic Diagnosis

• Cystic Fibrosis Mutation scan

• FMF Mutation scan

• Trombophili panel Mutation scan

• Connexin Mutation scan

• Hemochromatosis Mutation scan

• Warfarin Mutation scan

• JAK2 Mutation scan

• Charcot-Marie-Tooth Mutation scan

• Y chromozome-microdeletion test

• The detection of Y component in abortion material

• Uniparental disomy and  genotyping

• Full mitochondrial Genome Scan

Research Assistants

Dr. Büşranur Çavdarlı

Dr. Guyem Kolbaşı Özgen

Dr. Abdullatif Bakır

Dr. Gülsüm Kayhan

Dr. Bayram Taşkın

Dr.Taha Bahsi

Dr.Fatma Nihal Dilek

Dr. Hanife Çoban

Biologists

Bio. Işıl Küçün Kiraz

Specialist Bio. Derya Kan

Specialist Bio. Sezen Güntekin

Specialist Bio. Ebru Aytekin

Technicians

Selma Karakılıç

Esra Küçük

Our Physicians Specialized in Medical Genetics

Specialist Dr. Altuğ Koç

Specialist Dr. Kadri Karaer

Specialist Dr. Özgür Erkal

Dr. Ayşegül Öztürk Kaymak