Symptoms and Testing information for DKC1 Gene Hoyeraal-Hreidarsson Syndrome Genetic Test

Symptoms and Testing information for DKC1 Gene Hoyeraal-Hreidarsson Syndrome Genetic Test

Understanding Hoyeraal-Hreidarsson Syndrome

Hoyeraal-Hreidarsson Syndrome (HHS) is a rare, inherited disorder considered to be a severe variant of Dyskeratosis Congenita. This condition is characterized by multiple system involvements, including bone marrow failure, immunodeficiency, and developmental abnormalities. The DKC1 gene, located on the X chromosome, has been closely associated with this syndrome. Mutations in the DKC1 gene disrupt the normal function of proteins essential for maintaining telomere length, leading to premature cellular aging and a wide range of clinical manifestations.

Symptoms of Hoyeraal-Hreidarsson Syndrome

Recognizing the symptoms of Hoyeraal-Hreidarsson Syndrome is crucial for early diagnosis and management. The condition presents a spectrum of clinical features, including:

  • Severe growth retardation that is often noticeable prenatally or shortly after birth
  • Microcephaly, or an unusually small head size, with associated developmental delays
  • Cerebellar hypoplasia, leading to coordination and balance difficulties
  • Bone marrow failure, manifesting as aplastic anemia, neutropenia, or thrombocytopenia
  • Immunodeficiency, increasing susceptibility to infections
  • Pulmonary and liver fibrosis
  • Skin abnormalities, such as abnormal skin pigmentation
  • Nail dystrophy and oral leukoplakia

Given the complexity and severity of these symptoms, early genetic testing is recommended for at-risk individuals to confirm the diagnosis and initiate appropriate management strategies.

DKC1 Gene Hoyeraal-Hreidarsson Syndrome Genetic Test

At DNA Labs UAE, we offer a comprehensive genetic test specifically designed to detect mutations in the DKC1 gene associated with Hoyeraal-Hreidarsson Syndrome. Our state-of-the-art laboratory employs advanced sequencing technologies to ensure accurate and reliable results. The test is crucial not only for diagnosing affected individuals but also for carrier testing, prenatal diagnosis, and pre-implantation genetic diagnosis in families with a known mutation.

Test Cost and Procedure

The cost of the DKC1 Gene Hoyeraal-Hreidarsson Syndrome Genetic Test at DNA Labs UAE is 4400 AED. The testing process involves a simple blood draw or buccal swab from the patient. Once the sample is received at our laboratory, our team of genetic experts will analyze the DNA for mutations in the DKC1 gene. Results are typically available within a few weeks and are thoroughly explained by our genetic counselors to ensure that you understand the implications for your health or that of your family.

Why Choose DNA Labs UAE?

Choosing DNA Labs UAE for your genetic testing needs ensures that you receive the highest quality care and support throughout the testing process. Our laboratory is equipped with the latest in genetic testing technology, and our team comprises experienced geneticists, counselors, and healthcare professionals dedicated to providing accurate diagnoses and comprehensive support. We understand the emotional and medical complexities involved in genetic disorders and strive to offer compassionate care alongside cutting-edge science.

For more information or to schedule a test, please visit our website:


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