Pathology provider |
Test |
Tests available |
Cost ($) |
Stated specificity and sensitivity |
Genetic counselling |
Australian Clinical Labs | Harmony NIPT | Standard NIPT |
450 |
See below | Yes, within 48 hours of high probability result, no additional cost. |
Standard NIPT + DiGeorge Syndrome | 520 | ||||
Sonic Genetics | Standard NIPT | 455 | See below | Yes, one counselling session. Must be in Australia and testing through Sonic genetics, accessed within 2 months of the high probability result | |
Genome-wide NIPT | 525 | ||||
VCGS | Percept | Genome-wide NIPT | 449 | See below | Yes (detail unclear) |
Laverty Pathology | Generation | Standard NIPT (Generation) | 455 | 99% accuracy | Yes, no additional cost with high probability result, must be referred by clinician who requested the NIPT |
Genome-wide NIPT (Generation 46) | 525 | ||||
Genome-wide NIPT + microdels and dups (Generation Plus) | 799 | ||||
Virtus |
Panorama | Standard NIPT | 435 | > 99% accuracy | Yes, can be booked through website. For complex cases requiring more than two appointments a follow up fee of $100 applies. For new assessments for patients who haven’t seen one of our fertility specialists at Virtus Health there may be an appointment fee of $150. |
Standard NIPT + DiGeorge Syndrome | 510 | ||||
Standard NIPT + 5 microdels (inc 22q11.2) | 635 |
In a large meta-analysis, the sensitivity (detection rate) for these trisomies was 99.7%, 97.9% and 99.0% respectively, while a false-positive rate (FPR) of just 0.04% was reported for each trisomy tested (1). The cumulative FPR of 0.12% means only about 1 in 830 pregnancies tested will receive a false positive call for any one of these conditions. In contrast, the screening performance of monosomy X was lower, with a sensitivity of 95.8% and a FPR of 0.14%.