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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)