Chromosome Analysis, for Chorionic Villus Sampling (CVS), Amniotic Fluid cells, Products of Conception (POC), 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
- 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