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BCS1L Gene Bjornstad Syndrome Genetic Test

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

-21%

The BCS1L Gene Bjornstad Syndrome Genetic Test is a specialized diagnostic assessment offered by DNA Labs UAE, designed to identify mutations in the BCS1L gene, which are responsible for Bjornstad Syndrome. This condition is characterized by the combination of sensorineural hearing loss and pili torti (twisted hair), and it may present other symptoms depending on the severity of the genetic mutation. The test plays a critical role in confirming the diagnosis, enabling early intervention and management of the condition. Conducted in the advanced facilities of DNA Labs UAE, the test costs 4400 AED and provides a comprehensive analysis, ensuring accurate results for affected individuals and their families. Through this genetic testing, healthcare providers can offer targeted treatment plans and counseling, significantly improving the quality of life for those with Bjornstad Syndrome.

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BCS1L Gene Bjornstad syndrome Genetic Test

At DNA Labs UAE, we offer the BCS1L Gene Bjornstad syndrome Genetic Test at a cost of AED 4400.0.

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:

Before undergoing the BCS1L Gene Bjornstad syndrome NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected with BCS1L Gene Bjornstad syndrome NGS Genetic DNA Test gene BCS1L.

Test Details:

The BCS1L gene Bjornstad syndrome NGS genetic test is a type of genetic test that analyzes the BCS1L gene for mutations associated with Bjornstad syndrome. Bjornstad syndrome is a rare genetic disorder characterized by hearing loss and twisted, brittle hair (pili torti). The BCS1L gene plays a crucial role in the function of mitochondria, which are responsible for producing energy in cells. Mutations in the BCS1L gene can disrupt the normal function of mitochondria, leading to the symptoms of Bjornstad syndrome.

Next-generation sequencing (NGS) technology is used for this test, which allows for rapid and simultaneous analysis of multiple genes or the entire genome. In the context of the BCS1L gene Bjornstad syndrome test, NGS is used to identify any mutations or variations in the BCS1L gene that may be responsible for causing the syndrome.

The BCS1L gene Bjornstad syndrome NGS genetic test can help confirm a clinical diagnosis of Bjornstad syndrome and provide information about the specific genetic variant causing the condition. This information is valuable for genetic counseling, family planning, and potentially guiding treatment decisions in the future.

Test Name BCS1L Gene Bjornstad syndrome 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 BCS1L Gene Bjornstad syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BCS1L Gene Bjornstad syndrome NGS Genetic DNA Test gene BCS1L
Test Details

BCS1L gene Bjornstad syndrome NGS genetic test is a type of genetic test that analyzes the BCS1L gene for mutations associated with Bjornstad syndrome. Bjornstad syndrome is a rare genetic disorder characterized by hearing loss and twisted, brittle hair (pili torti). The BCS1L gene provides instructions for producing a protein involved in the function of mitochondria, which are responsible for producing energy in cells. Mutations in the BCS1L gene can disrupt the normal function of mitochondria, leading to the symptoms of Bjornstad syndrome.

NGS, or next-generation sequencing, is a high-throughput DNA sequencing technology that can rapidly and simultaneously analyze multiple genes or the entire genome. In the context of the BCS1L gene Bjornstad syndrome test, NGS is used to identify any mutations or variations in the BCS1L gene that may be responsible for causing the syndrome.

The BCS1L gene Bjornstad syndrome NGS genetic test can help confirm a clinical diagnosis of Bjornstad syndrome and provide information about the specific genetic variant causing the condition. This can be useful for genetic counseling, family planning, and potentially guiding treatment decisions in the future.

SKU: TEST-4008 Category:

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