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Alternative Name
SNP array, CGH array, microarray
Methodology
Cytogenetics
Test Description

The SNP/Cytogenetic Profile is available for postnatal and pregnancy loss indications. With the best genome-wide coverage available, this test employs an enhanced SNP microarray with over 2.6 million SNP and non-polymorphic markers for detection of copy number variants (deletions, duplications, and amplifications) and loss of heterozygosity or uniparental disomy (LOH or UPD) in any chromosome. Sensitivity and specificity for detection of copy number variants >400 kb is >99%. Testing may not reliably detect abnormalities present in less than 20% of the cells tested. Balanced rearrangements, including translocations and inversions, are not detectable by this method. Clients may request microarray on POC as the sole test, or they may order POC cytogenetics with reflex to microarray if the POC culture fails or if cytogenetic results are normal.

Clinical Significance

This test provides genome-wide characterization of chromosomal imbalances at resolution approximately 10-25 times higher than conventional cytogenetics. Testing is appropriate in hematological disorders and solid tumors to obtain a detailed description of breakpoints and unidentified material in abnormal karyotyes, for detecting abnormalities in samples with normal karyotype, and for use after cytogenetics failure due to lack of growth or inadequate metaphases. Microarray testing such as the NeoARRAY is the only test for detection of copy-neutral loss of heterozygosity and uniparental disomy.

Specimen Requirements
  • Peripheral blood: 5 mL in EDTA tube.
  • Products of conception (without cytogenetics):
    • Dissected chorionic villi or known fetal tissue (preferred). Please send at least 50-100 mg villi or 0.5- 1 cm3 tissue(s) to our Aliso Viejo, CA laboratory.
    • Uterine contents or tissue of mixed fetal/maternal origin: Please send at least 50-100 mg villi or 0.5 -1 cm3 tissue(s) to our Nashville, TN laboratory.
    • Note: Place tissue in RPMI. Note type of tissue(s) sent on the test requisition and whether it is fetal in origin or mixed maternal/fetal. Please see our contact page for the shipping addresses.
  • POC (cytogenetics reflex to NeoARRAY): Please send at least 50-100 mg villi or 1- 1.5 cm3 tissue(s) to our Nashville, TN laboratory.
    • Note: Place tissue in RPMI. Note type(s) of tissue on test requisition, and send to our Nashville, TN facility. Please see our contact page for the shipping address.
    • Note: Dissected chorionic villi or known fetal tissue(s) are preferred, but uterine contents or tissue of mixed fetal/maternal origin is acceptable and will be processed. Please include villi if sending tissue from a fetal demise. Tissues placed in formalin are unacceptable.
  • Note: Please exclude biopsy needles, blades, and other foreign objects from transport tubes. These can compromise specimen viability and yield, and create hazards for employees.
Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <48 hours old preferred.

CPT Code(s)*
81229
Turnaround Time

14 days

Level of Service
Global

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.