The NIPT by GenePlanet test presentation

The NIPT by GenePlanet is a highly accurate non-invasive prenatal test that screens for chromosomal aneuploidies, including trisomies 21, 18 and 13, after week 10 of pregnancy onward. The test provides significantly stronger risk indication than traditional screening procedures. With a sensitivity rate of >99 % (validated on over 147,000 pregnancies) and a false positive rate of just 0,12 % for trisomies 21, 18 and 13, our test ensures that the number of women undergoing unnecessary invasive diagnostic procedures is significantly reduced.

To this date, over 5.000.000 NIPT samples with our technology have been processed worldwide.

Testing options

TrisomiesSex Chromosome AneuploidiesDeletion/Duplication SyndromesGender Identification
Down syndromeTurner syndrome60 microdeletions and duplications*Male / female
Edwards syndromeKlinefelter syndrome
Patau syndromeXXX
*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 | +234 81 23 04 71 90 |

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