Microarray Analysis for all Microdeletion/Microduplication Syndromes

Including (but not limited to..)

  • 1p36 
  • 2q31.1
  • 3q29
  • 9q34.3
  • 11q31.1
  • 15q24
  • 16p11.2
  • 16p13.3
  • 17p13.3
  • Wolf -Hirschhorn Syndrome*
  • Cri Du Chat Syndrome*
  • Sotos Syndrome
  • Saethre-Chotzen Syndrome
  • Williams Syndrome*
  • Langer-Giedion Syndrome
  • Retinoblastoma Syndrome
  • Prader-Willi Syndrome*
  • Angleman Syndrome*
  • Rubinstein-Taybi Syndrome
  • Miller Dieker Syndrome*
  • Smith Magenis Syndrome*
  • Di George Syndrome*
  • Steroid Sulfatase*
  • Kallmann Syndrome
  • SRY*

(*= Region specific FISH probe also available)


  Karyotyping

  • Chromosome analysis (G-band)
  • Chromosome Painting (FISH)
  • Centromere Probes (FISH)
  • Telomere Probes (FISH)


 FISH Probes

  • BCR/ABL1
  • PML/RARA
  • CBFB
  • MLL [KMT2A]
  • MDS 5
  • MDS 7
  • del (20q)
  • FIP1L1-CHIC2-PDGFRA
  • PDGFRB
  • FGFR1
  • RUNX1
  • RUNX1/RUNX1T1
  • ETV6/RUNX1
  • TP53/MPO
  • ATM/SE11
  • del (13q)
  • MYC
  • IGH
  • IGH/CCND1
  • IGH/BCL2
  • IGH/MAF1
  • IGH/FGFR3
  • IGH/MYC
  • BCL2
  • BCL6
  • MALT1
  • ALK
  • IGK
  • IGL
  • EV11
  • TCF3/PBX1
  • MYCN
  • MLL neuro
  • EWSR1
  • SRD 1p36/1qh
  • ERCC1/ZNF443 (19p/19q)
  • CEPX/Y
Others MAY be available.  Please consult the laboratory on 0131 537 (3)1944

Last Reviewed: 13/08/2015