Chromosome analysis 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 sterile saline
- Tissue biopsy: 3 mm biopsy in sterile saline
- POC: Skin, cord, or villi in sterile saline
- Whole blood: Minimum 5-10 mL in sodium heparin tube (green top)
- Ship at room temperature
- AF, including AFP: 7-10 days
- CVS: 5-10 days
- POC: 7-14 days
- Blood: 7-14 days
- Skin: 10-14 days
Prenatal Test Requisition with Sequenom NIPT
General Test Requisition