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Reveal SNP Microarray and Abbreviated Chromosome Analysis (Amniotic Fluid)

CPT:

81229; 88235; 88261. If additional testing is performed, concomitant CPT codes/charges will apply.

Reveal® SNP Microarray is a high density copy number array that detects genomic imbalance related to congenital anomalies, ultrasound abnormalities, miscarriage and stillbirth. It can also detect copy neutral changes such as uniparental disomy (UPD) and consanguinity, both of which are associated with increased risk for autosomal recessive conditions.

Test Details

Use

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.

Synonyms

Amnio Chromosome Five-cell Count Plus Microarray; CGH; CMA; SNP Array

Test Includes

DNA extraction; interpretation; limited five-cell amniotic sample chromosome analysis (two analyses, one karyotype)

Methodology

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.

Pregnancy Week

14–21 Weeks
22+ Weeks

Specimen Requirements

Specimen

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. 

Volume

25 mL amniotic fluid for concurrent array and chromosome analysis

Minimum Volume

12 mL amniotic fluid

Container

Sterile plastic conical tube

Collection

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

Special Instructions

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.

Causes for Rejection

Quantity not sufficient for analysis 

Storage Instructions

Maintain specimen at room temperature.

Additional Information

Limitations

This SNP assay does not detect balanced rearrangements and may not detect low-level mosaicism. 

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