Routine Cytogenetic Test List
Cytogenetics Laboratory
Routine Cytogenetic Test List
Chromosome Studies for Genetic Disorders
Chromosome Analysis, for Chorionic Villus Sampling, Amniotic Fluid cells, Conception, Blood, Skin Biopsy, Ascites or Pleural Fluid, Urine
Sister Chromosome Exchange Analysis (SCE) for Bloom Syndrome
Mitomycin C Stress Test (MMC) for Fanconi Anemia
General FISH Studies
- Rapid FISH for prenatal and newborn aneuploidy [13,18,21,X,Y], FISH
- Subtelomeric rearrangement
- X/Y Aneuploidy, Buccal smear, FISH
- Aneuploidy Detection, POC, FISH
- XIST, Xq13.2, FISH
- SRY, Yp11.2, FISH
- Sex chromosome mosaicism, FISH
- Molar pregnancy, FISH
- Sex chromosome abnormalities, FISH
- Chromosome anomalies, unspecified miscellaneous with chromosome-specific FISH probes
Syndrome FISH Studies
- 1p36 microdeletion syndrome, 1p36 deletion, FISH
- Wolf-Hirschhorn, 4p deletion, FISH
- Cri-du-Chat, 5p deletion, FISH
- Sotos syndrome, 5q deletion, FISH
- William’s syndrome, 7q11.23 deletion, FISH
- Prader-Willi/Angelman syndrome, 15q11.2 deletion, FISH
- 15q11.2 duplication syndrome, FISH
- Miller-Dieker syndrome, 17p13.3 deletion, FISH
- Smith-Magenis syndrome, 17p11.2 deletion, FISH
- Neurofibromatosis Type 1, 17q11.2 deletion, FISH
- DiGeorge/Shprintzen (VCF) syndrome, 22q11.2 deletion, FISH
- The 22q11.2 duplication, FISH
- Kallmann syndrome, Xp22.3 deletion, FISH
- Steroid sulfatase deficiency, Xp22.3 deletion, FISH
- Infertility/sex differentiation
- Turner variant
