Cytogenetics Department

Conventional Cytogenetics Analysis

• Karyotype from periferal blood
• Karyotype from embryonic blood
• Karyotype from miscarriage tissue
• Karyotype from spinal cord
• Karyotype from amniotic fluid
• Karyotype from chorionic villus

Molecular Cytogenetics Analysis using FISH

• Detection by Fish of 13q14.3 deletion
• Detection by FISH of TP53 (17q13.1) deletion/amplification
• Detection by FISH of 20q12 deletion
• Detection by FISH of 5q33-34 deletion
• Detection by FISH of 6q21 deletion
• Detection by FISH of 7q31 deletion
• Detection by FISH of ALK rearrangements [del(2p); t(2;5)]
• Detection by FISH of ATM (11q22.3) rearrangements
• Detection by FISH of BLC6 (3q27) rearrangements
• Detection by FISH of chromosome 12 trisomy
• FISH analysis with centromeric probe – chromosome 14/22
• Detection by FISH of DiGeorge Syndrome
• Detection by FISH of IGH (14q23) rearrangements
• Study of marker chromosome with centromeric probes (14/22,15)
• Detection by FISH of Miller – Dieker Syndrome
• Detection by FISH of MLL (11q23) rearrangements
• Detection by FISH of C-MYC (8q24) rearrangements
• OncoFISH for CLL (13q-, 11q-, 17p-, +12, ICH)
• OncoFISH for MM [13q-, 17p-, t(4;14), t(11;14)]
• OncoFISH for MDS (5q-, 7q-, 20q-)
• Detection by FISH of aneuploidies on uncultured amniotic fluid (chromosomes 13, 18, 21, X and Y)
• Detection by FISH of PDGFRB (5q32) rearrangements
• Detection by FISH of Phelan-McDermid Syndrome
• Detection by FISH of Prader-Willi/Angelman Syndrome
• Detection by FISH of RARa (17q21) rearrangements
• Detection by FISH of subtelomeric rearrangements
• Detection by FISH of Down Syndrome
• Detection by FISH of Smith-Magenis Syndrome
• FISH analysis with centromeric probe
• FISH analysis with painting probe
• FISH analysis with subtelomeric probe
• Detection by FISH of t(11;14) IGH/CCND1
• Detection by FISH of t(11;18) API1/MALT1
• Detection by FISH of t(12;21) ETV6/AML1
• Detection by FISH of t(14;16) IGH/MAF
• Detection by FISH of t(14;18) IGH/BCL2
• Detection by FISH of t(14;18) IGH/MALT1
• Detection by FISH of t(15;17) PML/RARa
• Detection by FISH of t(4;14) IGH/FGFR3
• Detection by FISH of t(8;14) MYC/IGH
• Detection by FISH of t(8;21) AML1/ETO1
• Detection by FISH of t(9;22) BCR/ABL
• Detection by FISH of CBFB rearrangements [inv(16)/t(16;16)]
• Detection by FISH of Williams Syndrome
• Detection by FISH of Wolf-Hirschhorn Syndrome
• FISH analysis of sexual chromosomes (X/SRY)
• FISH analysis of sexual chromosomes (X/Y)