OVERVIEW

WHAT IS VERAgene

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 diseases, VERAgene provides a comprehensive solution to prospective parents.

HOW IT WORKS

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

WHAT DOES VERAgene TEST FOR?

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.

TYPES OF CONDITIONS DETECTED BY VERAgene

Genetic conditions are caused by unwanted changes in the genome that happen during conception. Three types of genetic conditions are detected in VERAgene:

ANEUPLOIDIES
CONDITION	CAUSE
Down syndrome (Trisomy 21)	Three copies of chromosome 21
Edwards syndrome (Trisomy 18)	Three copies of chromosome 18
Patau syndrome (Trisomy 13)	Three copies of chromosome 13
Turner syndrome (Monosomy X)	One chromosome X
Triple X syndrome (Trisomy X)	Three copies of chromosome X
Klinefelter syndrome (XXY)	Extra copy of chromosome X
Jacobs syndrome (XYY)	Extra copy of chromosome Y
XXYY syndrome	Extra copies of chromosomes X and Y

MICRODELETIONS
CONDITION	CAUSE
DiGeorge syndrome (22q11.2)	Deletion of part of chromosome 22
1p36 deletion syndrome	Deletion of part of chromosome 1
Smith-Magenis syndrome (17p11.2)	Deletion of part of chromosome 17
Wolf-Hirschhorn syndrome (4p16.3)	Deletion of part of chromosome 4

MONOGENIC DISEASES

See a complete list of monogenic diseases screened below.

WHAT SHOULD I ASK MY DOCTOR?

WHAT IS A NON-INVASIVE PRENATAL TEST (NIPT)?

It is a test that a pregnant woman can take to check for genetic conditions of the fetus before birth. NIPTs are screening tests which are highly accurate, particularly for the detection of chromosomal aneuploidies. NIPTs screen for the most common and severe chromosomal aneuploidies, such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18) and Patau syndrome (Trisomy 13) with higher accuracy than conventional screening tests, such as ultrasounds and biochemical screening. At the same time, NIPTs can screen for sex chromosome aneuploidies and microdeletions which may not have biochemical or ultrasound findings.

WHY SHOULD I DO THE VERAgene TEST?

Microdeletions and single gene diseases – unlike aneuploidies – do not have a maternal age-associated risk, and most of them do not have chemical or ultrasound biomarkers that can help in early detection. The cumulative risk for the fetus to be affected by one of the genetic conditions screened by VERAgene is 1 in 50 in moderate to high risk pregnancies and could be higher in some ethnic populations where some of the conditions are more prevalent. VERAgene can accurately screen for these conditions to help parents take informed decisions about possible treatments and clinical management.

IS THERE AN AGE LIMIT FOR VERAgene?

No. VERAgene can be done by pregnant women of all ages because it screens for genetic conditions that don’t have any maternal age-associated risk.

WHEN CAN I DO THE TEST?

VERAgene test can be done as early as the 10th week of gestation.

HOW CAN I TAKE THE VERAgene TEST?

Be at least 10 weeks pregnant

Ask your doctor about taking VERAgene

Your doctor will collect a blood sample from you and a buccal swab from the biological father

The samples will be analyzed in our laboratories

The test results will be sent to your doctor in 4-7 working days

ACCEPTED MATERIAL

2x 10 ml blood in BCT cell free DNA tubes (from the mother) and 1 buccal swab (from biological father)

TURNAROUND TIME

4-7 working days from sample receipt to the laboratory

TECHNOLOGY

Test Methodology

SEQUENCING

Next generation sequencing (Illumina)

ENRICHMENT

Proprietary Target Capture Enrichment Technology (Click here to see our Publications)

SNV AND CNV DATA ANALYSIS

VEGA (proprietary analysis software)

DATA EVALUATION

POLARIS (proprietary analysis software)

REFERENCE GENOME

hg19, NCBI GRCh37

QUALITY CRITERIA

>30 (precision 99,9%)

DISORDERS TESTED BY VERAgene

DOCUMENTATION (click to download)
Monogenic diseases tested by VERAgene
Mutations tested and detection frequency – Veragene

OUR TESTS

VERAgene NIPT

Genes: ACOX1, AGA, AGL, ALDH3A2, ALDOB, ALMS1, ASNS, ASPA, BBS1, BBS12, BCKDHB, BCS1L, BTD, CFTR, CHM, CLN8, CLRN1, COL4A5, CTSK, CYP19A1, DCLRE1C, DHDDS, DLD, DNAH5, DNAI1, EIF2B5, ELP1, ETFA, EYS, F11, FANCC, FANCG, G6PC, GBA, GLDC, GNE, GNS, HADHA, HAX1, HBB, HEXA, HGSNAT, HMGCL, HOGA1, HYLS1, IDS, IL2RG, IVD, LAMC2, LCA5, LHCGR, LIFR, LIPA, LPL, LRPPRC, MCCC1, MCCC2, MFSD8, MMAA, MMACHC, MMADHC, MMUT, MPV17, MTM1, MTRR, MTTP, NBN, NPHS2, OAT, PAH, PCDH15, PDHB, PEX1, PEX2, PFKM, PKHD1, PMM2, RAB23, RAG2, RLBP1, SAMHD1, SEPSECS, SGCB, SLC12A6, SLC25A13, SLC25A15, SLC26A4, SLC35A3, SLC37A4, SLC7A7, SUMF1, TGM1, TMEM216, TPP1, TSFM, UGT1A1, VPS13A, VPS53, VRK1.