NIPTIFY Plus (trisomies 21, 18 and 13 + X, Y aneuploidies + 8 microdeletions + fetal gender)

The test includes: trisomies of chromosomes 21, 18, and 13 and accurate fetal gender determination, analysis of sex chromosome number changes and examination for the 21 microdeletion syndrome (DiGeorge syndrome (22q11.2), Angelman/Prader-Willi syndromes, 15q11-q13 duplication syndrome, Williams-Beuren syndrome, 1p36 deletion syndrome, Cri-du-chat syndrome, Wolf-Hirschhorn syndrome, Jacobsen syndrome, Langer-Giedion syndrome, Duchenne muscular dystrophy, 7q11.23 duplication syndrome, 17q12 deletion syndrome, Smith-Magenis syndrome, Koolen-De Vries syndrome, Phelan-McDermid syndrome, 15q24 deletion syndrome, Neurofibromatosis (type 1), 3q29 microdeletion syndrome, 2q31.2 deletion syndrome, Miller-Dieker syndrome, Pallister-Killian syndrome.). The test is not applicable in the case of multiple pregnancies.

NIPTIFY is performed using the modern DNA sequencing technology Focus Plus. Before sequencing, the fetal DNA fraction is amplified, so during the test, 3.6 times more fetal genetic material is analyzed compared to regular NIPT tests. This significantly increases the sensitivity and accuracy of the test, thus the number of repeat tests is close to zero and the test is suitable for patients with overweight (in the case of overweight, the amount of fetal DNA in the pregnant woman's blood is lower).

Recommendation for when to perform the test: singleton - from 10 weeks of pregnancy.

Sample: blood.

Execution time after entering the laboratory: 5 - 10 business days.