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Veragen | Non-invasive prenatal test

Known as: Veragen | Non-invasive prenatal test
SKU: 80

Original price was: ₾1,900.00.Current price is: ₾1,230.00.

Study material: Venous blood
Response time (working day): 14
The test is done on an empty stomach: no
Home call service: Yes
Country: EU

General Information

Sampling for research will be done:

  • In the regions: Tuesday and/or Wednesday   
  • In Tbilisi: on Wednesday and/or Thursday (in the first half of the day)

Samples will be shipped on Thursday afternoons! For this, the sample must be at the central laboratory by 12:00 on Thursday

The taken sample is sent and the research is conducted in the laboratory At MEDICOVER Genetics, which is an internationally accredited laboratory.

Test results are available within 14 working days of sampling. The answer will be sent to the E-mail address of the doctor and the patient. at the post office. It is also possible to receive on-site laboratory center.

If necessary, Synevo Laboratory offers a consultation with a geneticist.  

 

VERAgene The test is a new generation non-invasive prenatal test (NIPT) that screens for 13th (Patau syndrome), 18th (Edwards syndrome) and 21st (Down syndrome) trisomies, X, Y chromosome aneuploidy, microdeletions (DiGeorge , 1p36, Smith-Magenis, Wolf Hirschhorn) and the risk of developing 100 monogenic fetal diseases.

VERAgene The test targets 2,000 mutations to detect 100 monogenic diseases. Along with screening for monogenic diseases, the possibility of simultaneous detection of aneuploidies and microdeletions gives us a complex picture of pregnancy using a single test.

VERAgeneGenetic disorders identified by - are often serious and have a significant impact on quality of life. These genetic diseases are manifested in the form of congenital malformations, developmental delays, hearing impairment, blindness, metabolic disorders, etc.

VERAgene The cumulative risk of fetal damage by one of the genetic disorders detected by the test is 1 in every 350 pregnant women and may increase in some ethnic populations where certain diseases have a higher prevalence.

VERAgene The test can accurately identify the risk of developing these disorders and help parents make informed decisions about possible treatment and clinical management in a timely manner.

The circulating free DNA of the fetus, the so-called fetal fraction, makes up about 3-13% of the total free DNA and is mainly generated from the placenta, which disappears from the mother's blood within a few hours of the fetus's birth. The VERAgene test uses the free DNA (fetal fraction) of the fetus isolated from the mother's blood and a DNA sample taken from the biological father to determine the potential for certain genetic mutations using the latest patented technology and bioinformatics.

VERAgene The test can be performed in singleton, twin and in vitro fertilization (IVF) pregnancies from at least the 10th week of gestation. In the presence of vanishing twin syndrome, a twin pregnancy can be tested after the 10th week of gestation and 4 weeks after the disappearance of one of the embryos. Aneuploidies of X and Y chromosomes are not detected in twin pregnancy and vanishing twin syndrome.

 

*Sampling takes place after 4 weeks; *** Aneuploidy  X, Y, Not made twins and extinct twins during pregnancy. 

∨ The test is done

Non-invasive screening avoids the risk of miscarriage and intrauterine infection, which may be associated with invasive prenatal testing (amniocentesis or chorionic biopsy). also, Timely detection of fetal aneuploidies allows for early intervention and management.

When should we take the test?

  • Pregnant age 35 years and older - With age, the risk of giving birth to a child with Down syndrome increases significantly. The older a pregnant woman is, the greater the risk;
  • Presence of previous pregnancy with confirmed chromosomal disease of the fetus - The risk increases by 35-1% in women under 2 years of age. In women over the age of 35, the risk of further pregnancy depends on the age risk, which is correspondingly higher for Down syndrome;
  • Presence of confirmed genetic pathology in one of the parents, which has not been identified as a disability or disease;
  • Presence of a known family genetic disease or genetic pathology; which can be confirmed by biochemical or DNA tests. The risk of developing monogenic diseases increases by 25-50%;

Abnormalities detected during pregnancy:

  • Abnormal ultrasound data of fetal morphology
  • Increased risk of developing chromosomal abnormalities after double and triple biochemical screening
  • Retardation of fetal intrauterine development, etc.

Family history of congenital anomalies.

In-vitro fertilization.

Patients with contraindications to invasive methods of prenatal diagnostics.

How to prepare for the test?

VERAgene The test can be performed from the 10th week of pregnancy. A doctor-specialist needs information about a detailed ultrasound examination, which will estimate the age of pregnancy (weeks), which is especially important in the early stages of pregnancy.

VERAgene Before taking the test sample, it is necessary for the patient to get acquainted with and fill in the relevant documentation, which includes: 1. Information about the sample (SIF); 2. Informed consent of the patient; 3. Information on personal data processing (including information on non-invasive prenatal testing and its limitations).

VERAgene For the test, only the venous blood of the pregnant woman and the buccal (taken from the buccal mucosa) smear of the biological father are needed. Before taking the test, a pregnant woman does not need any special preparation (fasting, etc.). As for the father - 30 minutes before taking the smear, it is recommended not to eat, smoke, or chew gum.

Due to the special characteristics of the sampling system (so-called "kits"), the analysis will be done only in "Synevo" laboratory centers or in specialized clinics, where the medical staff has been previously trained by "Synevo"

Limitations and inaccuracies:

If a pregnant woman has undergone blood transfusions, organ transplants, or stem cell therapy, there is a possibility of obtaining a false result due to the presence of exogenous DNA.

Possible interpretation of the results

VERAgene The test can assess the following chromosomal abnormalities:

Trisomy 13 (Pataw), 18 (Edwards), 21 (Down)

Down, Edwards and Patau syndrome are genetic conditions caused by the presence of an extra chromosome (trisomy). Additional copies of chromosome 21 are responsible for Down syndrome, and additional copies of chromosomes 18 and 13 are responsible for Edwards and Patau syndrome, respectively.

Down syndrome is characterized by a decrease in the level of intellectual development and congenital defects. The incidence of the syndrome is 1 in every 700 pregnancies and is more common in women over the age of 35.

Edwards and Patau syndromes are rarer and occur in 1 in 3,000 pregnancies and 1 in 10,000 pregnancies.

The congenital defects here are so severe that children with the disease usually die in the first year of life.

Determination of sex (presence of Y-chromosome)

Aneuploidy X, Y, which includes: Turner syndrome – monosomy X0; triple X syndrome – XXX; Klinefelter's syndrome – XXY; Jacobs syndrome – XYY.

Sex chromosome aneuploidy is a genetic disorder caused by the presence or absence of a specific sex chromosome. The pair on chromosome 23 determines the sex of an individual. Women have two X chromosomes and men have one X chromosome and one Y chromosome.

There are four major sex chromosome aneuploids:

  • Turner syndrome is characterized by the presence of one X chromosome.
  • Syndrome XXX is characterized by the presence of three X chromosomes.
  • Klinefelter syndrome is characterized by the presence of two X chromosomes and one Y chromosome.
  • Jacobs syndrome is characterized by the presence of one X chromosome and two Y chromosomes.

Microdelation, which includes: Dee George (22q11.2); 1p36 deletion; Smith-Mageni (17p11.2); Wolff-Hirshorn (4p16.3) syndromes.

Microdeletion is a genetic disorder caused by the loss of a specific part of a chromosome. Microdeletion is manifested in the form of various congenital anomalies and limitations of mental development. The severity of symptoms depends on the size and location of the microdeletion. The most common microdeletion syndrome is DiGeorge / DiGeorge Syndrome / Syndrome, which occurs in about every 1000 pregnancies.

100 monogenic diseases

VERAgene screens more than 2 mutations responsible for the development of 000 monogenic diseases:

  • Cystic fibrosis
  • Sickle cell anemia
  • Beta thalassemia
  • Tay-Sachs disease
  • Gaucher disease
  • Is phenylketonuria
  • Autosomal recessive polycystic kidney disease
  • Canavan disease
  • Fanconi anemia type C
  • Asher syndrome type 1F
  • Myotubular myopathy
  • Alstrum Syndrome
  • Abetalipoproteinemia
  • Bardet-Biedl syndrome
  • Alport syndrome associated with the X chromosome
  • Maple Syrup Type 1B Disease
  • Factor XI Deficiency

A complete list of monogenic diseases detected by VERAgene can be found here:

 

Learn more 

 

The accuracy rate for detecting these anomalies is close but not equal to 100%.

"High risk" (positive) result For a given genetic condition, it indicates that there is a high probability (> 99.9%) that the fetus will be diagnosed with this genetic disease.

Because VERAgene is not a diagnostic test, a positive result should be confirmed by a prenatal diagnostic test of amniotic fluid or chorionic villus sampling (amniocentesis; chorion biopsy).

Although the rate of detection of genetic disorders by the test is very high.

"Low risk" (negative) result Can not completely rule out the possibility of developing genetic disorders in the fetus.

The accuracy of the test for the detection of sex chromosome aneuploids is 99.9%.

"Synevo" recommends that you get detailed information about these syndromes from a specialist doctor. 

VERAgene test does not reveal:

  • Balanced chromosomal translocations and other structural chromosomal abnormalities in addition to the above;
  • Polyploidy;
  • Fetal and / or placental chromosomal mosaicism;
  • DNA methylation defects.

 

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