OVERVIEW
WHAT IS VERAgeneVERAgene 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 diseases, VERAgene provides a comprehensive solution to prospective parents.
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.
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.
Targeted genomic analysis
VERAgene avoids genomic regions with complex architecture that affect test performance thereby increasing precision and accuracy
High-read depth
Captured fragments are counted several hundreds of times using NGS to achieve very high statistical accuracy and precision
Accurate fetal fraction
A proprietary bioinformatics software accurately calculates fetal fraction which increases the robustness and reliability
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.
VERAgene VS CONVENTIONAL TESTS
AUTOSOMAL ANEUPLOIDIES
● Down syndrome (Trisomy 21)
● Edwards syndrome (Trisomy 18)
● Patau syndrome (Trisomy 13)
SEX CHROMOSOME ANEUPLOIDIES
● Turner syndrome (Monosomy X)
● Triple X syndrome (Trisomy X)
● Klinefelter syndrome (XXY)
● Jacobs syndrome (XYY)
● XXYY syndrome
MICRODELETIONS
● DiGeorge syndrome (22q11.2)
● 1p36 deletion syndrome
● Smith-Magenis syndrome (17p11.2)
● Wolf-Hirschhorn syndrome (4p16.3)
MONOGENIC DISORDERS
100 single gene (monogenic) disorders analyzed in the biological parents. See below for complete list.
