Chromosome Analysis and AFP with Reflex to AchE, Fetal Hgb, and Oligo‑SNP (NY)
Also known as: Amnio, SNP array, ClariSure®, Karyotype, Prenatal
Use
Testing determines chromosomal status of the fetus. Numerical and structural chromosomal abnormalities can be diagnosed. Sex and the presence of more than one cell line (mosaicism) can also be determined. Indications include diagnosis of chromosome abnormalities in fetuses of women who are of advanced maternal age; had a previous child with a chromosome abnormality; parental carrier of a balanced translocation, inversion or marker chromosome; parental mosaicism and follow‑up for abnormal maternal serum alpha fetoprotein or maternal screening results.
Special Instructions
Physician attestation of informed consent required if ordering medical facility is located in AK, AZ, DE, FL, GA, MA, MN, NV, NH, NJ, NM, NY, OR, SD or VT — test is performed in MA.
Limitations
This assay cannot detect subtle rearrangements, microduplications, and most microdeletion syndromes, such as DiGeorge, Prader‑Willi, Angelman, Williams, and Smith‑Magenis syndromes. Mosaicism below 14% (at a 95% confidence level) cannot be detected. Single‑gene disorders such as fragile X syndrome, cystic fibrosis, Marfan syndrome, and neurofibromatosis are also not detected.
Methodology
Chromosomal / Cytogenetics
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Not provided.