Chromosome Analysis and AFP with Reflex to AChE, Fetal Hgb, Amniotic Fluid
Use
This assay provides prenatal cytogenetic evaluation via chromosome analysis performed on amniotic fluid and assesses alpha-fetoprotein (AFP) levels, with reflex to acetylcholinesterase (AChE) and fetal hemoglobin testing if AFP is elevated, aiding in the detection of chromosomal abnormalities and neural tube or abdominal wall defects.
Special Instructions
Not provided.
Limitations
This assay cannot detect subtle rearrangements, microduplications, most microdeletion syndromes (e.g., DiGeorge, Prader-Willi, Angelman, Williams, Smith-Magenis), mosaicism below approximately 14% at a 95% confidence level, or single‑gene disorders (e.g., fragile X, cystic fibrosis, Marfan syndrome, neurofibromatosis).
Methodology
Other
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
20 mL (5 mL minimum); 30 mL preferred if additional testing like microarray/FISH is ordered
Minimum Volume
5 mL
Container
sterile, screw‑cap container
Collection Instructions
Send at room temperature. Do not freeze. Supernatant will be split by cytogenetics lab.