NIPT Gene 500 different autosomal Recessive Mutations DNA Test
د.إ 5,000.00 د.إ 3,500.00 Book Now
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NIPT Gene 500 different autosomal Recessive Mutations DNA Test

د.إ 5,000.00 د.إ 3,500.00

-30%

Cell-free DNA extracted from the mother’s blood and paternal DNA sample Can detect several fetal
genetic disorders.

  • HIGHLY ACCURATE > 99% detection rate for aneuploidies
  • SAFE No risk of fetal miscarriage
  • FAST Can be done from 10 weeks of pregnancy

A single test for aneuploidies, microdeletions and point mutations

(50 customer reviews)

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Description

VERAgene 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

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.

HOW DOES VERAgene WORK?
VERAgene needs a maternal blood sample, and a buccal swab sample from the biological father. The maternal blood contains cell-free DNA (cfDNA) from both the mother and the fetus. This cfDNA 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.

The main features of VERAgene are:

TARGETED GENOMIC ANALYSIS
VERAgene uses proprietary technology, specifically designed to avoid genomic regions with complex
architecture that aect 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 detecting aneuploidies, microdeletions and monogenic diseases, along with fetal gender.

WHAT DOES VERAgene SCREEN FOR?

Aneuploidies

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 copy of 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

Microdeletions

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

Monogenic diseases

Condition Impact Gene (Mutations)
3 Methylcrotonyl CoA Carboxylase Deficiency 1 severe MCCC1 (2)
3 Methylcrotonyl CoA Carboxylase Deficiency 2 severe MCCC2 (8)
Abetalipoproteinemia severe (moderate) MTTP (1)
Arthrogryposis Mental Retardation Seizures severe SLC35A3 (1)
Autosomal recessive polycystic kidney disease severe PKHD1 (30)
Bardet Biedl syndrome 12 severe (blindness) BBS12 (4)
Beta thalassemia very severe HBB (88)
Canavan disease severe ASPA (4)
Choreacanthocytosis moderate VPS13A (1)
Crigler Najjar syndrome, Type I very severe UGT1A1 (10)
Cystic fibrosis very severe CFTR (122)
Factor V Leiden thrombophilia moderate F5 (1)
Factor XI deficiency severe F11 (4)
Familial dysautonomia moderate IKBKAP (3)
Familial Mediterranean fever moderate MEFV (8)
Fanconi anemia (FANCG-related) severe FANCG (3)
Glycine encephalopathy (GLDC-related) very severe GLDC (2)
Glycogen storage disease, Type 3 severe AGL (14)
Glycogen storage disease, Type 7 severe PFKM (3)
GRACILE Syndrome very severe BCS1L (12)
Inclusion body myopathy, Type 2 moderate GNE (2)
Isovaleric acidemia severe IVD (1)
Joubert syndrome, Type 2 severe TMEM216 (2)
Junctional epidermolysis bullosa, Herlitz type severe LAMC2 (1)
Leber congenital amaurosis (LCA5-related) severe LCA5 (3)
Leydig cell hypoplasia [Luteinizing Hormone Resistance] moderate LHCGR (10)
Limb girdle muscular dystrophy, Type 2E severe SGCB (6)
Lipoamide Dehydrogenase Deficiency [Maple syrup urine disease, Type 3] severe DLD (7)
Lipoprotein lipase deficiency moderate LPL (1)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency severe HADHA (2)
Maple syrup urine disease, Type 1B severe BCKDHB (5)
Methylmalonic acidemia (MMAA-related) very severe MMAA (14)
Multiple sulfatase deficiency very severe SUMF1 (1)
Navajo neurohepatopathy [MPV17-related hepatocerebral mitochondrial DNA depletion syndrome] severe MPV17 (1)
Neuronal ceroid lipofuscinosis (MFSD8-related) very severe MFSD8 (2)
Nijmegen breakage syndrome severe NBN (1)
Ornithine translocase deficiency [Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome] severe SLC25A15 (3)
Peroxisome biogenesis disorders Zellweger syndrome spectrum (PEX1-related) severe PEX1 (3)
Peroxisome biogenesis disorders Zellweger syndrome spectrum (PEX2-related) severe PEX2 (1)
Phenylketonuria very severe PAH (67)
Pontocerebellar hypoplasia, Type 2E very severe VPS53 (2)
Pycnodysostosis severe CTSK (2)
Pyruvate dehydrogenase deficiency (PDHB-related) severe PDHB (2)
Retinal Dystrophy (RLBP1-related) [Bothnia retinal dystrophy] severe (blindness) RLBP1 (1)
Retinitis pigmentosa (DHDDS-related) severe (blindness) DHDDS (1)
Sanfilippo syndrome, Type D [Mucopolysaccharidosis IIID] severe GNS (5)
Sickle-cell disease very severe HBB (15)
Sjögren-Larsson syndrome severe ALDH3A2 (2)
Tay-Sachs disease very severe HEXA (14)
Usher syndrome, Type 1F moderate (hearing loss) PCDH15 (2)

50 reviews for NIPT Gene 500 different autosomal Recessive Mutations DNA Test

  1. sam

    Excellent service

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