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Amnio Chromosome Five-cell Count Plus Microarray; CGH; CMA; SNP Array
DNA extraction; interpretation; limited five-cell amniotic sample chromosome analysis (two analyses, one karyotype)
This test is currently not orderable by New York State clients. A completed Clinical Questionnaire for SNP Microarray should accompany specimens. Concurrent maternal contamination (MCC) studies are required. If prior NIPT or maternal serum screening studies have been performed, include copy of report.
Expected Turnaround Time
10 - 28 days Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Amniotic fluid for direct array and abbreviated amnio chromosome analysis. Gender by ultrasound is required. Submit maternal blood (sodium heparin or EDTA) for maternal cell contamination studies.
25 mL amniotic fluid for concurrent array and chromosome analysis
12 mL amniotic fluid
Sterile plastic conical tube
Discard first 2 mL of fluid aspirated to avoid maternal cell contamination. Specimen is collected in a 20 mL sterile syringe and transferred aseptically to sterile tubes
Maintain specimen at room temperature.
Causes for Rejection
Quantity not sufficient for analysis
Detects chromosomal imbalance that could be associated with developmental delay and congenital anomalies; used to rule out tetraploidy and rearrangements not detected by microarray, such as balanced translocation and inversions. This test provides detection of uniparental disomy of any chromosome, the percentage and location of homozygosity, including the degree of identity by descent. Abbreviated chromosome analysis detects balanced rearrangements.
This SNP assay does not detect balanced rearrangements and may not detect low-level mosaicism.
Whole genome SNP-based copy number microarray analysis targeting 2.695 million copy-number and allele-specific genome sites from uncultured cells. If DNA yield on uncultured cells is inadequate, analysis will be performed on cultured cells.
Coppinger J, Alliman S, Lamb AN, et al. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray. Prenat Diagn. 2009 Dec; 29(12):1156-1166.PubMed 19795450 Wapner R. A multicenter, prospective, masked comparison of chromosomal microarray with standard karyotyping for routine and higher risk prenatal diagnosis. Am J Ob Gyn. 2012 Jan; (Suppl). Abstract 1.