Chromosome Analysis Reflex to Microarray Blood (CytoScan HD) Test performed only on BLOOD samples from neonates and children under the age of 6 months.

CPT Code(s)

88230, 88262

Synonym(s)

88230, 88261, 81229

Performed

Clinical & Molecular Cytogenetics Laboratory

Clinical Indication and Relevance

This test combines both a preliminary 5-cell chromosome analysis and microarray blood. For critically ill neonates (younger than 6 months of age) it is vital to get a rapid diagnosis so extensive and invasive treatment options are discussed with families depending on the type of abnormality and if the abnormality is lethal. Since the neonates are critically ill and require extensive treatment including invasive and complex surgeries, a rapid test result becomes a necessity. With this test option, the laboratory will perform a rapid 24-hour chromosome culture and analysis to see if there are major chromosome abnormalities such as trisomies or large chromosome rearrangements and provide prognostic information quickly within 24-48 hours so clinicians and can discuss the available options with the family.
If the rapid 5-cell preliminary chromosome analysis is ABNORMAL and shows a major chromosome abnormality, the testing will reflex to “Constitutional Chromosome Analysis – Blood” and the final report is available within 7-10 days.
If the rapid 5-cell preliminary chromosome analysis is NORMAL, the testing is reflexed to “Microarray – Blood” to detect cryptic and sub-microscopic copy number variations that may explain the infant’s clinical presentation.
This reflex option provides a cost effective strategy by either charging for chromosome analysis or microarray and not both. This strategy also provides rapid test results, optimized patient care for critically ill neonates and reduces in-patient hospital stays.

Methodology

Culture / Microscopy / Karyotype

DNA Extraction / Hybridization / Data Capture and Analysis / Interpretation

Reflex Testing to CytoScan Assays (SNP Microarray) FDA Cleared test, prelim results in 1-2 days, one low cost. For more information please contact strlclientservices@uthscsa.edu

Minimum Specimen Requirements

Container: EDTA (purple top tube) / Sodium Heparin (green top tube)

Optimal Quantity: 4-5 ml

Minimum Quantity: 1-2 ml

Storage: Room Temperature

Stability at Room Temperature: 8 hours, then refrigerate

Transportation: Avoid freezing or heating over 35°C

Turnaround time

Preliminary 5-cell Chromosome Analysis Report – 24 to 48 hours

Final Chromosome Analysis Report (if performed) – 7 to 10 days

Final Microarray Report in 21 days for 90% cases

Communication

Please refer to “Constitutional Chromosome Analysis-Blood” for details on the 5-cell preliminary chromosome analysis.

Please refer to “Microarray-Blood” for details on high-resolution SNP microarray testing.

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