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NIPT (13, 18, 21, X, Y)

Test Information

Test Name: NIPT (13, 18, 21, X, Y)

Performing Lab: Molecular Diagnostic

Internal Code: N/A

Synonyms: N/A

Order Includes: N/A

Turnaround Time: 7-10 days

Additional Interpretation: N/A

Methodology: Multiplexed single-nucleotide polymorphism (SNP) analysis of 13,392 SNPs covering chromosomes 21, 18, 13, X, and Y and massively parallel sequencing of cell-free DNA from maternal plasma. Constellation platform is used to determine copy number variants by analyzing SNP allele frequencies to provide Bayesian probabilities against copy number hypotheses. QC metrics are reviewed by the Molecular Diagnostics Laboratory against predetermined thresholds. Copy number probabilities are interpreted to report the risk for chromosomal aneuploidies in placental cell-free DNA (against the background of maternal cell-free DNA).

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CPT Code: 81420



Result Information

Reference Interval: Low risk

Interpretative Information: NIPT (13, 18, 21, X, Y) is a non-invasive prenatal test that analyzes fetal-placental, cell-free DNA isolated from maternal plasma as early as nine weeks into gestation. The test report includes the risk for trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), trisomy 21 (Down syndrome) and sex chromosome aneuploidies: Monosomy X (Turner syndrome), XXX (Triple X syndrome), XXY (Klinefelter syndrome) and XYY. The report also includes the percentage of fetal fraction in the sample and the fetal sex if the patient chose to have it. NIPT is a screening test and not a diagnostic test. Women detected to be at high-risk for aneuploides should be offered confirmatory invasive testing.

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Critical Range: N/A



Specimen & Collection Information

Specimen Name: Whole Blood (see special instructions for collection below)

Container Type: Streck Cell-free DNA™ blood collection tubes (BCTs)

Special Handling: Store all collected blood samples at room temperature (15 to 25°C) and deliver immediately to the Pathology laboratory.

Patient/Specimen Preparation: No patient preparation required.

Specimen Volume: Collect TWO 10 mL maternal blood samples into Streck Cell-free DNA™ blood collection tubes (BCTs). DO NOT use butterfly needle. Fill both tubes to within 1 inch (2.5 cm) of the tube stopper bottom. Gently mix samples by inverting each tube 10 times immediately after draw.

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Specimen Transportation & Storage Information

Storage and Transport:Store all collected samples at room temperature (15 to 25°C) until shipped or processed. Do not leave packaged samples where they may be exposed to temperatures outside the recommended range for extended periods of time. Samples should be received within 6 days of collection.