TERT Gene Dyskeratosis Congenita Autosomal Recessive Type 4 Autosomal Dominant Type 2 Genetic Test sale cost 4400 AED
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TERT Gene Dyskeratosis Congenita Autosomal Recessive Type 4 Autosomal Dominant Type 2 Genetic Test Cost

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

-21%

Dyskeratosis Congenita (DC) is a rare, genetically heterogeneous disorder characterized by the triad of reticulated skin pigmentation, nail dystrophy, and oral leukoplakia. Bone marrow failure, pulmonary complications, and an increased risk of malignancies are serious health concerns associated with this condition. The disease manifests in various forms, including autosomal recessive type 4 and autosomal dominant type 2, both of which are linked to mutations in the TERT gene. The TERT gene plays a crucial role in maintaining telomere length, which is essential for chromosome stability and cellular lifespan.

To diagnose and differentiate between the types of Dyskeratosis Congenita, particularly those associated with TERT gene mutations, genetic testing is pivotal. DNA Labs UAE offers a comprehensive genetic test for this purpose. The test specifically identifies mutations in the TERT gene that are known to cause autosomal recessive type 4 and autosomal dominant type 2 Dyskeratosis Congenita. This precise genetic testing can aid in the accurate diagnosis of the disease, which is crucial for the management and treatment planning for affected individuals.

The cost of the TERT gene Dyskeratosis Congenita genetic test at DNA Labs UAE is 4400 AED. The test is conducted under stringent quality control measures to ensure accuracy and reliability of the results. Individuals who have a family history of Dyskeratosis Congenita or exhibit symptoms consistent with the disorder may consider undergoing this genetic test. Early diagnosis through genetic testing can significantly impact the clinical management and improve the quality of life for those affected by this challenging condition.

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TERT Gene Dyskeratosis Congenita Genetic Test

At DNA Labs UAE, we offer the TERT Gene Dyskeratosis Congenita Genetic Test for individuals who suspect they may have autosomal recessive type 4 (AR DC4) or autosomal dominant type 2 (AD DC2) Dyskeratosis Congenita (DC).

Test Details

Dyskeratosis congenita is a rare genetic disorder that affects multiple body systems, including the skin, nails, and bone marrow. It is characterized by abnormal changes in these tissues, leading to various symptoms and complications. The TERT gene is responsible for producing an enzyme called telomerase reverse transcriptase, which plays a crucial role in maintaining the length and stability of telomeres, the protective caps at the ends of chromosomes.

Mutations in the TERT gene result in reduced telomerase activity, leading to the progressive shortening of telomeres over time. This affects the ability of cells to divide and function properly, causing the characteristic features of DC.

Our TERT Gene Dyskeratosis Congenita Genetic Test utilizes Next-Generation Sequencing (NGS) technology to analyze the TERT gene for mutations. By sequencing the DNA of an individual, we can identify any variations or abnormalities in the TERT gene sequence. This information can confirm a diagnosis of DC and provide insights into the specific genetic mutation causing the condition.

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: Osteology Dermatology Immunology Disorders
  • Doctor: Dermatologist
  • Test Department: Genetics

Pre-Test Information

Prior to undergoing the TERT Gene Dyskeratosis Congenita Genetic Test, it is recommended to provide the clinical history of the patient who is going for the test. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with TERT Gene Dyskeratosis Congenita. This will help in understanding the inheritance pattern and guiding the testing process.

Benefits of Genetic Testing

Genetic testing for Dyskeratosis Congenita can provide several benefits, including:

  • An accurate diagnosis of the condition
  • Guidance for treatment decisions
  • Genetic counseling for affected individuals and their families
  • Carrier testing for individuals with a family history of DC

It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and implications of genetic testing before undergoing the procedure.

Test Name TERT Gene Dyskeratosis congenita autosomal recessive type 4 autosomal dominant type 2 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 Osteology Dermatology Immunology Disorders
Doctor Dermatologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for TERT Gene Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TERT Gene Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2 NGS Genetic DNA Test gene TERT
Test Details

Dyskeratosis congenita (DC) is a rare genetic disorder that affects multiple body systems, primarily the skin, nails, and bone marrow. It is characterized by abnormal changes in these tissues, leading to various symptoms and complications.

There are several types of DC, with autosomal recessive type 4 (AR DC4) and autosomal dominant type 2 (AD DC2) being two of them. These types are caused by mutations in the TERT gene, which provides instructions for making an enzyme called telomerase reverse transcriptase.

Telomerase is involved in maintaining the length and stability of telomeres, which are protective caps at the ends of chromosomes. Mutations in the TERT gene result in reduced telomerase activity, leading to the progressive shortening of telomeres over time. This ultimately affects the ability of cells to divide and function properly, causing the characteristic features of DC.

NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool used to identify mutations in genes associated with genetic disorders. In the case of DC, NGS can be used to analyze the TERT gene for mutations and determine if a person has AR DC4 or AD DC2.

NGS involves sequencing the DNA of an individual to identify any variations or abnormalities in the TERT gene sequence. This can help in confirming a diagnosis of DC and providing information about the specific genetic mutation causing the condition. It can also be used for carrier testing in individuals with a family history of DC.

Genetic testing for DC can be helpful in providing an accurate diagnosis, guiding treatment decisions, and offering genetic counseling to affected individuals and their families. It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and implications of genetic testing before undergoing the procedure.

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