Cytogenomic

What is a karyotype?

Fig.1: Normal Male Karyotype

Fig.2: Interphase FISH for chromosomes X (green signal) and Y (red signal). Result: XXY

Diagnostic Prenatal: In 2008 introducem diagnosticul prenatal rapid prin metoda QF-PCR pentru Sindromul Down si Trisomie (13,18,21,X,Y) cu rezultat in 24 ore.

  • Cariotip Lichid amniotic + QF-PCR (13,18,21,X,Y)
  • Cariotip Vilozitati coriale + QF-PCR (13,18,21,X,Y)
  • Cariotip sange fetal
  • Cariotip produs de avort

Diagnostic Postnatal:

  • Cariotip sange metoda clasica
  • Cariotip sange High Resolution

Diagnostic Leucemii:

  • Cariotip maduva osoasa
  • Cariotip blaste periferice