Medical Genetics

Exclusive to the Department

 

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

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