Routine Test List

Chromosome Analysis, for Chorionic Villus Sampling, Amniotic Fluid cells, Products of Conception, Blood, Skin Biopsy, Ascites or Pleural Fluid

General FISH Studies

  • Rapid FISH for prenatal and newborn aneuploidy [13,18,21,X,Y]
  • Subtelomeric rearrangement
  • X/Y Aneuploidy, Buccal smear
  • Aneuploidy Detection, POC
  • XIST, Xq13.2
  • SRY, Yp11.2
  • Sex chromosome mosaicism
  • Molar pregnancy
  • Sex chromosome abnormalities
  • Chromosome anomalies, unspecified miscellaneous with chromosome-specific FISH probes

Syndrome FISH Studies

  • 1p36 microdeletion syndrome, 1p36 deletion
  • Wolf-Hirschhorn, 4p deletion
  • Cri-du-Chat, 5p deletion
  • William’s syndrome, 7q11.23 deletion
  • Prader-Willi/Angelman syndrome, 15q11.2 deletion
  • 15q11.2 duplication syndrome
  • Miller-Dieker syndrome, 17p13.3 deletion
  • Smith-Magenis syndrome, 17p11.2 deletion
  • DiGeorge/Shprintzen (VCF) syndrome, 22q11.2 deletion
  • 22q11.2 duplication syndrome
  • Kallmann syndrome, Xp22.3 deletion
  • Steroid sulfatase deficiency, Xp22.3 deletion