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IRF6 Gene Popliteal Pterygium Syndrome Type 1 Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The IRF6 gene plays a crucial role in the development and function of tissues and organs in the body, particularly in the facial, skin, and genital areas. Mutations in the IRF6 gene can lead to Popliteal Pterygium Syndrome Type 1 (PPS1), a rare genetic disorder characterized by webbing of the skin behind the knees (popliteal pterygium), oral clefts, lip pits, genital malformations, and, in some cases, anomalies in the limbs and nails.

To diagnose PPS1, a genetic test focusing on the IRF6 gene can be conducted. This test identifies mutations in the IRF6 gene that are responsible for the syndrome, providing crucial information for diagnosis, treatment planning, and genetic counseling.

In the United Arab Emirates, DNA Labs UAE offers this specific genetic test. The cost of the test is 4400 AED. Conducted in a state-of-the-art facility, the test is designed to provide accurate and reliable results, assisting in the early detection and management of Popliteal Pterygium Syndrome Type 1. This genetic testing is an essential tool for families with a history of PPS1, offering insights into the condition and aiding in making informed decisions regarding healthcare and family planning.

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IRF6 Gene Popliteal Pterygium Syndrome Type 1 Genetic Test

Test Details

The IRF6 gene is responsible for producing a protein that plays a crucial role in the development of various tissues and organs, including the face, skin, and genitals. Mutations in the IRF6 gene can lead to a condition known as popliteal pterygium syndrome type 1 (PPS1).

PPS1 is a rare genetic disorder characterized by several physical abnormalities, including cleft lip and/or palate, webbing of the skin on the back of the knee (popliteal pterygium), and abnormalities of the fingers and/or toes. It is inherited in an autosomal dominant manner, which means that a mutation in only one copy of the IRF6 gene is sufficient to cause the condition.

Test Name: IRF6 Gene Popliteal Pterygium Syndrome Type 1 Genetic Test

Components:

  • Price: 4400.0 AED
  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
  • Report Delivery: 3 to 4 Weeks
  • Method: NGS Technology
  • Test Type: Dysmorphology
  • Doctor: Pediatrics
  • Test Department: Genetics

Pre Test Information

Clinical History of Patient who is going for IRF6 Gene Popliteal Pterygium Syndrome Type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IRF6 Gene Popliteal Pterygium Syndrome Type 1 NGS Genetic DNA Test gene IRF6.

Test Details

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes or the entire genome. In the case of PPS1, NGS genetic testing can be used to identify mutations in the IRF6 gene.

This testing can help confirm a diagnosis of PPS1 in individuals with characteristic symptoms and can also be used for carrier testing and prenatal diagnosis in families with a known IRF6 gene mutation. It is important to note that genetic testing for PPS1 should be performed by a qualified healthcare professional or genetic counselor who can provide appropriate counseling and interpretation of the results.

Genetic testing can provide valuable information for individuals and families affected by PPS1, including information about the inheritance pattern, recurrence risk, and potential treatment options.

Test Name IRF6 Gene Popliteal pterygium syndrome type 1 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Dysmorphology
Doctor Pediatrics
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for IRF6 Gene Popliteal pterygium syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IRF6 Gene Popliteal pterygium syndrome type 1 NGS Genetic DNA Test gene IRF6
Test Details

The IRF6 gene is responsible for producing a protein that plays a crucial role in the development of various tissues and organs, including the face, skin, and genitals. Mutations in the IRF6 gene can lead to a condition known as popliteal pterygium syndrome type 1 (PPS1).

PPS1 is a rare genetic disorder characterized by several physical abnormalities, including cleft lip and/or palate, webbing of the skin on the back of the knee (popliteal pterygium), and abnormalities of the fingers and/or toes. It is inherited in an autosomal dominant manner, which means that a mutation in only one copy of the IRF6 gene is sufficient to cause the condition.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes or the entire genome. In the case of PPS1, NGS genetic testing can be used to identify mutations in the IRF6 gene. This testing can help confirm a diagnosis of PPS1 in individuals with characteristic symptoms and can also be used for carrier testing and prenatal diagnosis in families with a known IRF6 gene mutation.

It is important to note that genetic testing for PPS1 should be performed by a qualified healthcare professional or genetic counselor who can provide appropriate counseling and interpretation of the results. Genetic testing can provide valuable information for individuals and families affected by PPS1, including information about the inheritance pattern, recurrence risk, and potential treatment options.

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