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Inherited diseases carrier screening test

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NEXTGEN 21

Our mission is –
healthy baby In
your arms

21 GENE STUDIED

TEST’S SENSIVITY

99%

TEST’S SPECIFIC

99%

Health of the children - is the greatest value. But for all parents, even completely healthy ones , there is a possibility to bear a child with hereditary disease caused by mutations in genes. Each of us is bearer of several hereditary diseases.

The danger arises, when both parents have a mutation in a single gene, and transmit them to their child. NextGen (Next Generation Carrier Screening) allows a comprehensive study of the genes based on a technology highly efficient sequencing - which allows all future parents in advance to find out their genetic status and to evaluate the risk of giving birth to seriously ill children . The unique test is the result of joint work by NGC clinic and ParSeq Lab (St. Petersburg). This analysis enables to identify clinically significant variations of inherited disease in the genes - especially the most frequent and severe, which can lead to early death or significant deterioration of the quality of life.

NEXTGEN 21: GENE AND DISEASES

AR - autosomal recessive; AD - autosomal dominant.

Gene
Disease

Inheritance

CFTR
Cystic fibrosis

AR

PAH
Phenylketonuria

AR

SMN1
Spinal muscular atrophy

AR

SMN2DMPK
Myotonic dystrophy type I

AR

DMD
Duchenne muscular dystrophy

X-linked

HTT
Huntington's Disease

AD

F8
Hemophilia A

X-linked

HBB
Beta-thalassemia

АР

HBB
Sickle cell anemia

AR

APC
Familial Adenomatous Polyposis type I and II
AD
MUTYH
Familial Adenomatous Polyposis type I and II
AR
IDUA
Mucopolysaccharidosis type I

AR

PKD1
Autosomal dominant polycystic kidney disease type I and II

AD

PKD2 AD PMP22
disease Charcot-Marie-Tooth

AD

VHL
disease Von Hippel - Lindau

AD

ATP7B
Wilson's disease

AR

GBA
Gaucher disease

AR

HEXA
Tay - Sachs

AR

BRCA1/BRCA2
Hereditary breast cancer and ovarian I and II

AD

To whom NextGen recommened to?

Everyone. Especially:

  • those who are planning the birth of a child
  • If you have a family history of hereditary diseases
  • If family’s  history of hereditary diseases is unknown
  • in the case of consanguineous marriage
  • ethnic groups with an increased risk
  • when planning IVF with a donor
  • all donors in the program of assisted reproduction

NGC Clinic will help you to choose a donor of gametes with a known genetic status who has been examined using the NextGen test.

NextGen test - technology and capabilities

  • based on highly efficient sequencing technology (NGS)
  • aims to establish carrier status of the most often occurring and severe hereditary diseases
  • identifies both known and previously described mutations, including genes with high population heterogeneity - familial cases
  • has high analytical characteristics(Sensitivity 99% and specificity 99%)
  • allows to determine the genetic status of the studied genes with a high degree of accuracy
  • assigned once and is relevant for each subsequent pregnancy

Use of the NextGen test will allow you to significantly reduce the likelihood of birth of children with severe hereditary diseases.Based on research the doctor geneticist calculates the reproductive risk and develops recommendations for each individual family.

PROCEDURES AND PRICES
NextGen 21 Inherited diseases carrier screening test386 €

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