NIPT PREMIUM
Non-invasive prenatal test with screening for single-gene conditions
NIPT by GenePlanet offers the possibility to test your baby for chromosomal abnormalities as well as 202 single-gene conditions.
NIPT Premium is the most comprehensive test on the market
It screens for a wide range of conditions:
Common chromosomal abnormalities:
Down (trisomy 21), Edwards (trisomy 18), and Patau (trisomy 13) syndrome, trisomies 9, 16, and 22
Aneuploidies of sex chromosomes
Screens for abnormalities in the sex chromosomes
92 deletion/duplication syndromes bigger than 3 M base pairs
All other autosomal aneuploidies and deletions/duplications*
*In case the patient chooses incidental findings (deletions and duplications bigger than 5 M base pairs).
Gender information
Provided upon request
202 single-gene conditions
Exclusively in Premium! Screens for 202 autosomal dominant* single-gene conditions that can significantly impact health and become more likely as the father's age increases.
*Dominant means that just one copy of the mutated gene in is sufficient to cause the condition.
You can check out all conditions included in the NIPT Premium package here.
WHY NIPT MONO?
Comprehensive screening
Our advanced test covers 202 severe autosomal dominant* single-gene disorders, including new non-inherited** mutations in 155 genes, that can cause conditions like Noonan syndrome. These conditions are not detected by standard NIPT methods.
Advanced paternal age
This screening is important when the father is over 40, identifying conditions such as Crouzon syndrome and Osteogenesis imperfecta, which are more likely to occur with increasing paternal age.
Early detection
Identifies conditions that traditional prenatal screenings such as ultrasound could miss, often only detectable late in pregnancy or after birth.
Equal risk across maternal age:
Suitable for pregnant women of all ages, regardless of family history.
* “Dominant" means that just one copy of the mutated gene is sufficient to cause the condition.
** Non-inherited variation also called de novo variation, are changes in a DNA sequence that appear for the first time in a family. They occur randomly in a gene when a child is conceived and are not inherited from either parent. 74% of dominant single-gene conditions are caused by de novo mutations.
Read more about all the conditions screened by NIPT Mono.
How Does NIPT Premium Work?
NIPT Premium involves 2 types of detailed analysis - chromosomal and monogenic conditions. Therefore it is required to take 2 x 10 ml blood samples from the mother (2 tubes).
You will receive 2 separate reports:
1st report
Delivery time is 6-10 days for chromosomal anomalies, sex aneuploidies, 92 deletions and duplications, gender information and optional incidental findings. Includes everything except monogenic diseases.
2nd report - exclusive in NIPT Premium
Delivery time is up to 22 days. Includes 202 autosomal dominant single-gene conditions.
Both analyses use Next Generation Sequencing (NGS) to analyse cell-free DNA in maternal blood sample.
