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Chromosome Analysis and AFP with Reflex to AChE, Fetal Hgb, Amniotic Fluid

Test code(s) 14591

The FAQ information attached by the previously provided link has been retired. The link continues to be available for your historic reference. Current FAQs can be viewed at QuestDiagnostics.com/FAQs.

This is an outdated version of this FAQ. It was effective 11/19/2012 to 06/19/2014.

The current version is available here.

Question 1. Multiple fetal anomalies were detected by ultrasound in this pregnancy, but the chromosome analysis and AFP study was normal. Are there further studies that can be done to evaluate for a genetic disorder in the fetus?

Yes, there are other studies that 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 (test code 90927, Chromosomal Microarray, Prenatal, ClariSure® Oligo-SNP). If clinical suspicion exists for a specific disorder, there may be other genetic testing available. Please contact 1-866-GENE-INFO to discuss the case with a genetic counselor and for information on adding additional testing.

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 his/her education, clinical expertise, and assessment of the patient.
Document FAQS.35 Revision: 1