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CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome Genetic Test Cost

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

-21%

The CHSY1 gene Temtamy preaxial brachydactyly syndrome genetic test is a specialized diagnostic procedure available at DNA Labs UAE. This test specifically targets the CHSY1 gene, mutations in which are associated with Temtamy preaxial brachydactyly syndrome, a rare genetic disorder characterized by limb and digit abnormalities. The syndrome manifests through a spectrum of phenotypes, including shortened fingers and toes (brachydactyly), duplication of the thumb or big toe (preaxial polydactyly), and in some cases, additional skeletal anomalies.

The genetic test is crucial for accurate diagnosis, allowing for personalized medical management and genetic counseling for affected families. It involves the collection of a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of mutations in the CHSY1 gene that are known to cause the syndrome.

The cost of the CHSY1 gene Temtamy preaxial brachydactyly syndrome genetic test at DNA Labs UAE is 4400 AED. This price reflects the comprehensive nature of the test, covering the cost of the genetic analysis, the expertise of the laboratory personnel, and the detailed report provided to the patient or their healthcare provider. The report not only confirms the diagnosis but also offers insights into the condition’s inheritance patterns, implications for family members, and possible interventions or management strategies.

Given the rarity of the condition and the specialized nature of the test, it represents a significant step forward in the field of genetic diagnostics in the UAE, offering hope and clarity to families affected by this challenging syndrome.

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CHSY1 Gene Temtamy preaxial brachydactyly syndrome Genetic Test

Welcome to DNA Labs UAE, a leading genetic laboratory offering comprehensive genetic testing services. In this blog post, we will provide detailed information about the CHSY1 Gene Temtamy preaxial brachydactyly syndrome Genetic Test, including its cost, symptoms, diagnosis, and more.

Test Name: CHSY1 Gene Temtamy preaxial brachydactyly 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

Before undergoing the CHSY1 Gene Temtamy preaxial brachydactyly syndrome Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by the syndrome. This will help in understanding the inheritance pattern and provide valuable insights for the genetic testing process.

Test Details

The CHSY1 gene is associated with Temtamy preaxial brachydactyly syndrome, a rare genetic disorder characterized by abnormal development of the fingers and toes. Specifically, it leads to shortened or missing digits on the thumb side of the hand or big toe side of the foot. To diagnose this syndrome, NGS (Next-Generation Sequencing) genetic testing is performed to analyze the CHSY1 gene for any mutations or variations.

NGS technology enables high-throughput sequencing, allowing for the simultaneous analysis of multiple genes or the entire genome. By sequencing the CHSY1 gene, this test can identify any changes or mutations that may be present and provide a definitive diagnosis for individuals suspected of having Temtamy preaxial brachydactyly syndrome.

Genetic testing plays a crucial role in confirming a diagnosis, understanding the inheritance pattern of the syndrome, and assisting in family planning and genetic counseling. It can also aid in the development of targeted treatments or interventions for individuals with this syndrome.

However, it is important to note that genetic testing may not be necessary or available for all individuals with suspected Temtamy preaxial brachydactyly syndrome. Therefore, it is advisable to consult a healthcare professional for guidance on testing options and interpretation of results.

At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services. Our team of experts in the field of genetics ensures that every test is conducted with utmost precision and care. If you have any further questions or would like to schedule an appointment for the CHSY1 Gene Temtamy preaxial brachydactyly syndrome Genetic Test, please feel free to contact us.

Test Name CHSY1 Gene Temtamy preaxial brachydactyly 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 CHSY1 Gene Temtamy preaxial brachydactyly syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHSY1 Gene Temtamy preaxial brachydactyly syndrome NGS Genetic DNA Test gene CHSY1
Test Details

The CHSY1 gene is associated with a rare genetic disorder called Temtamy preaxial brachydactyly syndrome. This syndrome is characterized by abnormal development of the fingers and toes, specifically preaxial brachydactyly, which refers to shortened or missing digits on the thumb side of the hand or big toe side of the foot.

NGS (Next-Generation Sequencing) genetic testing can be used to analyze the CHSY1 gene for mutations or variations that may be causing the syndrome. NGS is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes or the entire genome. By sequencing the CHSY1 gene, this test can identify any changes or mutations that may be present and provide a diagnosis for individuals suspected of having Temtamy preaxial brachydactyly syndrome.

Genetic testing can help confirm a diagnosis, provide information about the inheritance pattern of the syndrome, and assist in family planning and genetic counseling. It can also aid in the development of targeted treatments or interventions for individuals with this syndrome. However, it is important to note that genetic testing may not be available or necessary for all individuals with suspected Temtamy preaxial brachydactyly syndrome, and a healthcare professional should be consulted for guidance on testing options and interpretation of results.

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