Chromosome analysis (karyotype) is offered on peripheral blood (PB), amniotic fluid (AF) (including alpha-fetoprotein (AFP) analysis), chorionic villi, products of conception (POC), skin, and other tissue biopsy specimens.
For prenatal cases, chromosome analysis is indicated for advanced maternal age, family history of genetic disease or chromosome abnormality, abnormal maternal serum screening, and/or abnormal ultrasound findings. For POC specimens, chromosome analysis may provide a diagnosis for fetal demise and identify recurrence risks for chromosome abnormalities in future pregnancies. For postnatal cases, chromosome analysis is indicated for individuals with multiple congenital anomalies, mental retardation, developmental delay, dysmorphic features, sexual ambiguity, multiple miscarriages, infertility, or fetal demise.
- Amniotic fluid: Minimum 15-20 mL direct fluid in a sterile conical centrifuge tube
- Chorionic villus sampling (CVS): Minimum 4 mg chorionic villi in transport media
- POC: Skin, cord, or villi in transport media
- Whole blood: Minimum 5-10 mL in sodium heparin tube (green top)
- Tissue biopsy: 3 mm biopsy in transport media.
If transport media is not available, sterile saline without additives is acceptable
- Ship at room temperature
- AF, including AFP: 7-10 days
- CVS: 5-10 days
- POC: ~14 days
- Blood: 14 days
- Skin: 14-21 days once cultures are established (may take up to 21 days).
Please allow additional time for specimens that require culturing.