Ginekalikslab

Lay the foundations for a health and happy family.

Helping parents to detect genetic risks, provide reproductive guidance, and prevent birth defects.

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Why Genetic Screening for Hereditary Conditions?

Each of us, on average, has 2.8 known genetic mutations. Although carriers are generally healthy, there is a risk of passing genetic conditions to their children. In many cases, couples are unaware that one of them could be a carrier of a genetic variation that might lead to genetic disorders in their future offspring. In fact, more than 80% of babies with genetic disorders have no family history of these conditions.

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Why Should Parents Do Carrier Screening?

Genetic disorders usually follow standard inheritance patterns. If both parents are not carriers of the same genetic disorder, the risk of the child developing a genetic condition is low. However, if both parents are carriers of the same genetic disorder, the risk increases. Carrier screening, conducted before or during pregnancy, allows future parents to learn about their potential risks early.

  • Accurate

  • Accessible

  • Precise

  • Comprehensive

Screening Tests

VISTA™ Carrier Screening Mini Panel

  • 11 most common genetic conditions
  • 13 genes
  • More than 5,400 pathogenic variants

VISTA™ Carrier Screening Targeted Panel 2.0

  • 172 common and severe genetic conditions
  • 164 genes
  • More than 10,000 pathogenic variants

This test is recommended for individuals at risk of carrying a pathogenic mutation that, if present in two copies, could lead to a genetic disorder.

VISTA™ Carrier Screening MAX

VISTA™ Carrier Screening Max is the most comprehensive test of its kind in the world, as it can identify, through DNA analysis with computer algorithms, over 80,000 mutations across more than 700 genes associated with over 800 diseases.

What is included?

List of recessive genetic diseases covered by the Vista™ 2.0 screening test

82 Hereditary metabolic disorders Wilson Disease; Primary Carnitine Deficiency; Phenylketonuria; Hyperphenylalaninemia, BH4-deficient, A; MUT-Related Methylmalonic Acidemia; Methylmalonic Aciduria and Homocystinuria cblC type, etc.
27 Neuromuscular / skeletal disorders Duchenne Muscular Dystrophy; Spinal Muscular Atrophy; Joubert Syndrome 2; Joubert Syndrome 3, etc.
19Skin disorders Oculocutaneous Albinism Type 1; Autosomal Recessive Congenital Ichthyosis 1; 19 Autosomal Recessive Congenital Ichthyosis 4A; Autosomal Recessive Congenital Ichthyosis 4B; Sjögren-Larsson syndrome, etc.
11 Cardiovascular system disorders Hemophilia B; Alpha-thalassemia; Beta-thalassemia; Sickle Cell Anemia, etc.
10 Endocrine disorders and autoimmune conditions Hemophagocytic lymphohistiocytosis, familial, Severe combined immunodeficiency, B cell-negative; X-Linked Severe Combined Immunodeficiency, etc.
10Gastrointestinal and urinary tract disorders Progressive Familial Intrahepatic Cholestasis 2; Alport syndrome 2, autosomal recessive; Nephrotic syndrome, type 1, etc.
7 Respiratory and ENT system disorders Cystic Fibrosis; Autosomal Recessive Deafness 1A; Autosomal Recessive Deafness 4, with Enlarged Vestibular Aqueduct, etc.
6 Complex multisystem disorders Meckel Syndrome 2, X-Linked Hypohidrotic Ectodermal Dysplasia; 6 COACH syndrome, etc.