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DKC1 Gene Hoyeraal-Hreidarsson Syndrome Genetic Test

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

-21%

The DKC1 gene plays a pivotal role in the diagnosis of Hoyeraal-Hreidarsson Syndrome (HHS), a rare and severe variant of Dyskeratosis Congenita. This condition is characterized by multisystem abnormalities, including bone marrow failure, immunodeficiency, and developmental defects. The genetic test for the DKC1 gene specifically targets mutations associated with HHS, offering crucial insights for accurate diagnosis and management of the syndrome.

Performed at DNA Labs UAE, this genetic test is priced at 4400 AED. The laboratory utilizes advanced genomic technologies to ensure precise and reliable detection of mutations within the DKC1 gene. This test is not only vital for confirming the diagnosis of Hoyeraal-Hreidarsson Syndrome but also plays a significant role in guiding treatment decisions, understanding prognosis, and facilitating genetic counseling for affected families. With a focus on accuracy and comprehensive care, DNA Labs UAE stands as a premier facility for genetic testing services in the region.

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  • This test is not intended for medical diagnosis or treatment
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DKC1 Gene Hoyeraal-Hreidarsson syndrome Genetic Test

Welcome to DNA Labs UAE, where we offer the DKC1 Gene Hoyeraal-Hreidarsson syndrome Genetic Test. This test is designed to diagnose the rare genetic disorder known as Hoyeraal-Hreidarsson syndrome (HHS). HHS is a severe form of dyskeratosis congenita (DKC) and is characterized by symptoms such as bone marrow failure, abnormal skin pigmentation, and shortened telomeres.

Test Details

The DKC1 gene is associated with Hoyeraal-Hreidarsson syndrome. To diagnose this disorder, we utilize Next-Generation Sequencing (NGS) technology. NGS allows us to analyze multiple genes simultaneously, providing a comprehensive analysis of the patient’s genetic makeup. By sequencing the DKC1 gene, we can identify any mutations or variations that may be causing the disorder. This information is crucial for an accurate diagnosis and can potentially guide treatment decisions.

Components

  • Test Name: DKC1 Gene Hoyeraal-Hreidarsson syndrome Genetic Test
  • 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: Neurological Disorders
  • Doctor: Neurologist
  • Test Department: Genetics
  • Pre Test Information: Clinical History of Patient who is going for DKC1 Gene Hoyeraal-Hreidarsson syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DKC1 Gene Hoyeraal-Hreidarsson syndrome.

Cost

The cost of the DKC1 Gene Hoyeraal-Hreidarsson syndrome Genetic Test is 4400.0 AED.

Symptoms

Common symptoms of Hoyeraal-Hreidarsson syndrome include bone marrow failure, abnormal skin pigmentation, and shortened telomeres.

Diagnosis

Diagnosing Hoyeraal-Hreidarsson syndrome involves genetic testing, specifically the DKC1 Gene Hoyeraal-Hreidarsson syndrome Genetic Test. This test uses NGS technology to analyze the DKC1 gene and identify any mutations or variations.

Conclusion

If you suspect that you or a loved one may have Hoyeraal-Hreidarsson syndrome, it is important to seek the guidance of a qualified healthcare professional or genetic counselor. They can interpret the results of the DKC1 Gene Hoyeraal-Hreidarsson syndrome Genetic Test and provide appropriate guidance and support.

Test Name DKC1 Gene Hoyeraal-Hreidarsson syndrome Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for DKC1 Gene Hoyeraal-Hreidarsson syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DKC1 Gene Hoyeraal-Hreidarsson syndrome
Test Details

The DKC1 gene is associated with a rare genetic disorder called Hoyeraal-Hreidarsson syndrome (HHS). HHS is a severe form of dyskeratosis congenita (DKC), which is characterized by a range of symptoms including bone marrow failure, abnormal skin pigmentation, and shortened telomeres (the protective caps at the ends of chromosomes).

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can analyze multiple genes simultaneously. In the case of HHS, NGS can be used to sequence the DKC1 gene and identify any mutations or variations that may be causing the disorder. This type of genetic testing can provide a comprehensive analysis of the patient’s genetic makeup, allowing for a more accurate diagnosis and potentially guiding treatment decisions.

It is important to note that genetic testing for HHS should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.