NIPT by GenePlanet test presentation

NIPT by GenePlanet is a non-invasive prenatal test (often called NIPT) to detect Down syndrome and certain other genetic malformations caused by additional or missing genetic information in the child's DNA.

The test only requires a small sample of the mother's blood and is available from the 10th week of pregnancy onward. The results are available in 6-8 working days.

Our test is more accurate than traditional screening tests and, compared to invasive methods such as amniocentesis, does not pose any risk to the mother or the child.

What irregularities are detected by NIPT by GenePlanet test?

Our test primarily detects the three most common trisomies present at birth: Down, Edwards and Patau syndrome. It is also possible to test for some other chromosomal abnormalities. Independent studies, including the largest study on the use of NIPT in clinical practice, which included 147,000 women, showed that NIPT by GenePlanet detects these deficiencies with 99 % sensitivity.

The test also offers additional testing options for other genetic anomalies, such as deletion syndromes and aneuploidy of sex chromosomes. You also have an option to find out your child's gender.

It is important that you consult your doctor before each genetic test in order to understand the abnormalities that can be detected by the test.

NIPT by GenePlanet testing options

Tested irregularitiesNIPT by GenePlanet BasicNIPT by GenePlanet StandardNIPT by GenePlanet PlusNIPT by GenePlanet Twins
Trisomy
Down syndrome
(trisomy 21)
Edwards syndrome
(trisomy 18)
Patau syndrome
(trisomy 13)
Aneuploidies of sex chromosomes
Turner syndrome
(monosomy X)
Klinefelter syndrome
(trisomy XXY)
Triple X syndrome
(trisomy X)
XYY syndrome
(trisomy XYY)
Information about sex
Girl / boyInformation about Y chromosome presence
Additional trisomies
Chromosome 9 trisomy
Chromosome 16 trisomy
Chromosome 22 trisomy
60 deletions and duplications*
*Detectable deletions and duplications
1q41-q42 microdeletion Syndrome
11q11-q13.3 duplication Syndrome
12q14 microdeletion Syndrome
14q11-q22 deletion Syndrome
15q26 overgrowth Syndrome
16p11.2-p12.2 microdeletion Syndrome
16p11.2-p12.2 microduplication Syndrome
17q21.31 deletion Syndrome
17q21.31 duplication Syndrome
1p36 microdeletion Syndrome
2q33.1 deletion Syndrome/Glass syndrome
5q21.1-q31.2 deletion Syndrome
8p23.1 deletion Syndrome
8p23.1 duplication Syndrome
Agelman Syndrome/Prader-Willi syndrome
Alpha Thalassemia, Mental Retardation Syndrome
Androgen insensitivity Syndrome (AIS)
Aniridia II & WAGR Syndrome
Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
Branchlootorenal dysplasia Syndrome (BOR)/ Melnick -Frazer Syndrome
Cat-eye Syndrome (CES)
Microphthalmia Syndrome 6 type, pituitary hypoplasia
Microphthalmia with linear skin deffects
Monosomy 9p Syndrome
Orofaciodigital Syndrome
Panhypopituitarism, X-linked
Potocki-Lupski Syndrome (17p11.2 duplication Syndrome)
Prader-Willi-like Syndrome (SIM1 Syndrome)
Rieger Syndrome 1 type (RIEG1)
Saethre-Chotzen Syndrome (SCS)
Sensorineural deafness and male infertility
Smith-Magenis Syndrome
Split-Hand / Foot Malformation 5 type (SHFM5)
Split-hand/foot malformation 3 type (SHFM3)
Syndrome Diaphragmatic hernia, congenital (HCD/DIH1)
Trichorhinophalangeal Syndrome1 type (TRPS1)
Van der Woude Syndrome (VWS)
Wilms tumour 1 (WT1)
X-linked lymphoproliferative Syndrome (XLP)
Xp11.22-p11.23 microduplication Syndrome
Chromosome 10q deletion Syndrome
Chromosome 10q22.3-q23.31 microdeletion Syndrome
Chromosome 18p deletion Syndrome
Chromosome 18q deletion Syndrome
Cornelia de Lange Syndrome (CDLS)
Cowden Syndrome (CD)
Cri du Chat (5p deletion) Syndrome
Dandy-Walker Syndrome (DWS)
DiGeorge Syndrome2 type (DGS2)
Distal arthrogryposis 2B type (DA2B)
Duchenne muscular dystrophy (DMD);Duchenne / Becker mascular dystrophy (DMD/BMD)
Dyggve-Melchior-Clausen Syndrome (DMC)
Feingold Syndrome
Holoprosencephaly 1 type (HPE1)
Holoprosencephaly 4 type (HPE4)
Holoprosencephaly 6 type (HPE6)
Jacobsen Syndrome
Langer-Giedion Syndrome (LGS)
Leukodystrophy with 11q14.2-q14.3
Mental retardation X-linked growth horm. Def (MRGH)
GenePlanet d.o.o., Cesta na Poljane 24, 1000 Ljubljana, Slovenia | +386 59 22 66 09 | nipt@geneplanet.com

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