Test code: 14591
Yes, other studies may be appropriate. There are many causes for fetal anomalies, some of which are genetic. In the absence of clinical suspicion for a specific genetic disorder, a microarray analysis may be performed to detect subtle deletions and duplications (Chromosomal Microarray, Prenatal, ClariSure® Oligo-SNP, test code 90927).
If clinical suspicion exists for a specific disorder, other genetic testing may be available. Please contact Quest Genomics Client Services at 866-GENE-INFO (866-436-3463) to discuss the situation with a genomic science specialist and for information on additional testing.
No. Please call Quest Genomics Client Services at 866-GENE-INFO (866-436-3463) to discuss this situation with a genomic science specialist. The specialist needs to know the specific genetic abnormality in the family, so they can determine whether the test’s resolution was sufficient to detect the abnormality.
This assay can detect the following:
In addition to chromosome abnormalities, this test can detect conditions associated with an elevated alpha fetoprotein (AFP). Such conditions include open neural tube defects, abdominal wall defects, esophageal and duodenal atresia, and congenital hydronephrosis.
Fetal blood contamination of the specimen can cause an elevated AFP; therefore, a fetal hemoglobin test is performed to rule out a false-positive result if the AFP is elevated. An acetylcholinesterase test is also performed to further clarify the cause of the elevated AFP. The presence of acetylcholinesterase is associated with an open neural tube defect, anencephaly, gastroschisis, other ventral wall defects, teratoma, hypoplasia of heart and lung, fetal demise, and fetal hemoglobin contamination.
The fetal hemoglobin and the acetylcholinesterase tests are reported using separate CPT codes at an additional charge.
This assay cannot detect:
Yes. The Maternal Cell Contamination Study, STR Analysis test (test code 10262) can be performed if a maternal blood sample is submitted. If considering adding MCC studies to a completed prenatal case, please call Quest Genomics Client Services at 866-GENE-INFO (866-436-3463) to speak with a genomic science specialist.
If the AFP MoM is ≥2.0, then Acetylcholinesterase and Fetal Hemoglobin, Amniotic Fluid will be performed at an additional charge (CPT code[s]: 82664, 83033).
This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on the physician’s education, clinical expertise, and assessment of the patient.
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