Are you aware of the risks you carry genetically?
Did you know that even if you or your partner's family do not have a known genetic disease, you can be a carrier of a genetic disease?
- What is Trisomy?
- WHAT IS GONOSOMAL ANEUPLOIDY?
- WHAT IS DELETION
/DUPLICATION SYNDROME? - WHAT İS SMA
- What is Fragile X
- What is Cystic Fibrosis
- What is Fabry's Disease
A normal body cell contains 46 chromosomes. Trisomy is the situation when there exist 3 copies (normally there should be 2 copies) of a chromosome in a body cell and as a result, the number of the chromosomes increases to 47. Existence of an extra chromosome may cause congenital anomalies, cognitive deficiency and growth/developmental retardation. Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau Syndrome) are the most common chromosomal diseases.
Gonosomal aneuploidies are characterized with the redundancy or deficiency of X and/or Y sex chromosomes. Although cognitive deficiencies occur in mild level in most of the Gonosomal Aneuploidy cases, clinical findings such as growth/developmental retardation, learning disability and infertility can be observed.
Deletion is characterized with the loss in a chromosome segment while duplication is characterized with the increase. Multitude, location and containing genes of deletion/duplication determine the clinical features of possible syndrome.
Spinal müsküler atrofi (SMA) is a genetic muscle disease in which basic muscle functions such as walking, breathing and swallowing are impaired, which occurs as a result of disruption in the SMN1 gene.
Fragile X Syndrome, a neurodevelopmental disorder that is among the most important known causes of hereditary mental retardation, causes mental, behavioral and physical disorders in patients.
Cystic Fibrosis is a genetic disease that causes problems such as recurrent lung infections, constipation in the newborn period, exocrine pancreatic damage in the later period, infertility in men as a result of defects in the cell components that maintain the chloride balance in the internal organs and sweat glands.
Fabry disease is a chronic disease that is triggered by exercise, stress, fatigue, causes pain in the hands and feet, and causes kidney damage, heart disease, heart enlargement, heart attack and stroke in severely ill patients.
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Genoks was founded in 2008 as R&D laboratory and produced PCR and RT-PCR based diagnostic kits and DNA isolation kits for purpose of use in molecular biology and genetics research between 2008-2010. These are registered in the National Data Bank and used by Turkey’s leading institutes and institutions.
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