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Reveal® SNP Microarray – Prenatal

CPT:

81229

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

This test detects chromosomal imbalance that could be associated with developmental delay/congenital anomalies. It provides detection of uniparental disomy of any chromosome, the percentage and location of homozygosity, including the degree of identity by descent.

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.

Specimen Requirements

Specimen

Cultured CVS or amniocytes

Volume

>30 cc of amniotic fluid or 30 mg of uncultured CVS

Container

Two confluent T-25 flasks

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

When ordering chromosome analysis with reflex to microarray if chromosome analysis is normal, provide at least 30 cc of amniotic fluid or 30 mg of uncultured CVS An increase in the turnaround time and additional charges will apply for the microarray A Clinical Questionnaire for Reveal SNP Microarray - Prenatal must be completed.

Causes for Rejection

Quantity not sufficient for analysis (less than 10 mL of amniotic fluid or DNA quantity <20 ng/μL); bloody sample; less than 17 weeks' gestational age

Storage Instructions

Maintain specimen at room temperature

Additional Information

Limitations

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

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