Type of Test
|Screening that measures the risk of trisomies 21, 18 and 13, X, Y aneuploidies, selected microdeletions, and a panel of 50 monogenic disorders.||Screening test that measures likelihood of trisomies 21, 18, and 13.|
|Genetic analysis of cell-free DNA from mother and DNA from father to determine the fetal risk for the tested conditions.||Biochemical analysis of maternal blood ultrasound, and other parameters (e.g. maternal age) are used to estimate chance of being fetus affected by trisomies.|
|Blood sample from biological mother and buccal swab from biological father||Blood sample from mother|
|Higher than 99% for trisomy 21, 18 and 13 sex chromosome aneuploidies and microdeletions. Higher than 99% (CI: 96% – 100%) PPV in detecting monogenic disorders.||80-95% for trisomy 21, 18 and 13.|
NEW GENERATION NON-INVASIVE PRENATAL TEST (NIPT)
- Can be done from 10 weeks of pregnancy
- Single screening test for aneuploidies, microdeletions and point mutations
- Validated for singleton and twin pregnancies
- Applicable also for IVF pregnancies
VERAgene is the only non-invasive prenatal test that can simultaneously screen for aneuploidies, microdeletions and single gene diseases. The diseases screened by VERAgene are associated with moderate to severe phenotype with significant impact on the quality of life. By combining detection of aneuploidies and microdeletions with the screening of monogenic disorders, VERAgene provides a comprehensive solution to prospective parents.
WHAT IS VERAgene NIPT?
VERAgene is the first comprehensive non-invasive prenatal test (NIPT) that can simultaneously screen for aneuploidies, microdeletions and point mutations. The diseases screened by VERAgene are often severe with significant impact on the quality of life. VERAgene targets 500 mutations to screen for 50 monogenic disorders.
By combining detection of aneuploidies and microdeletions with the screening of monogenic disorders, VERAgene provides a comprehensive picture of the pregnancy using a single test.
ΗOW DOES IT WORK?
VERAgene needs a maternal blood sample, and a buccal swab sample from the biological father. The maternal blood contains cell-free DNA from both the mother and the fetus. This cell-free DNA is isolated and analyzed along with the father’s DNA sample for any potential genetic mutations using next generation sequencing. Sophisticated bioinformatics algorithms are then used to compute the risk of the fetus having a monogenic disease.
The results are sent to the clinician who communicates them to the parents and provides the necessary counseling.
Cell-free DNA extracted from mother’s blood and paternal DNA sample
Can detect several fetal genetic disorders
Biochemical Screening Results, Ultrasound Findings and Other Parameters
Biochemical and ultrasound markers don’t exist for microdeletions and monogenic diseases
UNIQUE FEATURES OF VERAgene
VERAgene captures, counts and analyses cfDNA fragments from selected genomic regions using targeted enrichment and next generation sequencing (NGS) with proprietary genetic and analytical tools. The main features of VERAgene are:
TARGETED GENOMIC ANALYSIS
VERAgene uses proprietary technology, specifically designed to avoid genomic regions with complex architecture that affect test performance. This overcomes problems associated with other NIPTs and increases the precision and accuracy of VERAgene.
HIGH READ DEPTH
These fragments are then counted several hundreds of times using NGS to achieve very high statistical accuracy and precision.
ACCURATE FETAL FRACTION
VERAgene uses the high read-depth of maternal and fetal DNA counts from the genome to accurately measure the fetal contribution to the cfDNA. Accurate fetal fraction measurement protects from false results.
MULTI-ENGINE ANALYSIS PIPELINES
Proprietary bioinformatics pipelines analyze the sequencing data produced from each test. This multi-engine analysis increases the sensitivity and specificity of aneuploidy, microdeletion and fetal gender detection.
WHAT DOES VERAgene SCREEN FOR?
Condition Impact Cause Down syndrome (Trisomy 21) severe Three copies of chromosome 21 Edwards syndrome (Trisomy 18) very severe Three copies of chromosome 18 Patau syndrome (Trisomy 13) very severe Three copies of chromosome 13 Turner syndrome (Monosomy X) moderate One chromosome X Triple X syndrome (Trisomy X) mild Three copies of chromosome X Klinefelter syndrome (XXY) mild Extra copy of chromosome X Jacobs syndrome (XYY) mild Extra copy of chromosome Y XXYY syndrome severe Extra copies of chromosomes X and Y
Condition Impact Cause DiGeorge syndrome (22q11.2) severe Deletion of part of chromosome 22 1p36 deletion syndrome severe Deletion of part of chromosome 1 Smith-Magenis syndrome (17p11.2) severe Deletion of part of chromosome 17 Wolf-Hirschhorn syndrome (4p16.3) severe Deletion of part of chromosome 4
Condition Impact Genes 3 Methylcrotonyl CoA Carboxylase Deficiency 1 severe MCCC1 3 Methylcrotonyl CoA Carboxylase Deficiency 2 severe MCCC2 Abetalipoproteinemia moderate to severe MTTP Arthrogryposis, mental retardation, and seizures severe SLC35A3 Autosomal recessive polycystic kidney disease severe PKHD1 Bardet Biedl syndrome 12 severe (blindness) BBS12 Beta thalassemia very severe HBB Canavan disease severe ASPA Choreoacanthocytosis OR Chorea-acanthocytosis moderate VPS13A Crigler Najjar syndrome, Type I very severe UGT1A1 Cystic fibrosis very severe CFTR Factor V Leiden thrombophilia moderate F5 Factor XI deficiency severe F11 Familial dysautonomia moderate IKBKAP Familial Mediterranean fever moderate MEFV Fanconi anemia (FANCG-related) severe FANCG Glycine encephalopathy (GLDC-related) very severe GLDC Glycogen storage disease, Type 3 severe AGL Glycogen storage disease, Type 7 severe PFKM GRACILE Syndrome very severe BCS1L Inclusion body myopathy, Type 2 moderate GNE Isovaleric acidemia severe IVD Joubert syndrome, Type 2 severe TMEM216 Junctional epidermolysis bullosa, Herlitz type severe LAMC2 Leber congenital amaurosis (LCA5-related) severe LCA5 Leydig cell hypoplasia [Luteinizing Hormone Resistance] moderate LHCGR Limb girdle muscular dystrophy, Type 2E severe SGCB Lipoamide Dehydrogenase Deficiency [Maple syrup urine disease, Type 3] severe DLD Lipoprotein lipase deficiency moderate LPL Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency severe HADHA Maple syrup urine disease, Type 1B severe BCKDHB Methylmalonic acidemia (MMAA-related) very severe MMAA Multiple sulfatase deficiency very severe SUMF1 Navajo neurohepatopathy [MPV17-related hepatocerebral mitochondrial DNA depletion syndrome] severe MPV17 Neuronal ceroid lipofuscinosis (MFSD8-related) very severe MFSD8 Nijmegen breakage syndrome severe NBN Ornithine translocase deficiency [Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome] severe SLC25A15 Peroxisome biogenesis disorders Zellweger syndrome spectrum (PEX1-related) severe PEX1 Peroxisome biogenesis disorders Zellweger syndrome spectrum (PEX2-related) severe PEX2 Phenylketonuria very severe PAH Pontocerebellar hypoplasia, Type 2E very severe VPS53 Pycnodysostosis severe CTSK Pyruvate dehydrogenase deficiency (PDHB-related) severe PDHB Retinal Dystrophy (RLBP1-related) [Bothnia retinal dystrophy] severe (blindness) RLBP1 Retinitis pigmentosa (DHDDS-related) severe (blindness) DHDDS Sanfilippo syndrome, Type D [Mucopolysaccharidosis IIID] severe GNS Sickle-cell disease very severe HBB Sjögren-Larsson syndrome severe ALDH3A2 Tay-Sachs disease very severe HEXA Usher syndrome, Type 1F moderate (hearing loss) PCDH15