Symptoms of NHP2 Gene Dyskeratosis Congenita Autosomal Recessive Type 2
Dyskeratosis Congenita (DC) is a rare, genetically inherited disorder that affects various parts of the body. Among its types, the NHP2 gene dyskeratosis congenita autosomal recessive type 2 is notable for its specific genetic cause and manifestation. The NHP2 gene plays a critical role in the maintenance of telomeres, which are protective caps at the end of chromosomes. Mutations in the NHP2 gene disrupt normal telomere maintenance, leading to premature cellular aging and a wide array of symptoms.
Individuals with this condition often exhibit symptoms from a young age, which may include:
- Nail Dysplasia: Abnormal nail formation is one of the hallmark signs, with nails appearing ridged, thin, or absent.
- Oral Leukoplakia: White patches or sores inside the mouth are common and can be an early indicator of the disease.
- Skin Hyperpigmentation: Affected individuals may have patches of skin that are darker than the surrounding areas, often described as a lace-like appearance.
- Pulmonary Fibrosis: Lung tissue can become scarred, leading to difficulty breathing and reduced lung function over time.
- Bone Marrow Failure: A critical and life-threatening symptom where the bone marrow does not produce enough blood cells, leading to anemia, increased risk of infection, and bleeding problems.
- Liver Disease: Liver function may be compromised, manifesting through enlarged liver, jaundice, or other related symptoms.
- Developmental Delay: Some children with this condition may experience delays in growth and development.
Due to the complexity and variability of symptoms, a definitive diagnosis of NHP2 gene dyskeratosis congenita autosomal recessive type 2 often requires genetic testing.
Genetic Test for NHP2 Gene Dyskeratosis Congenita Autosomal Recessive Type 2
At DNA Labs UAE, we offer a comprehensive genetic test specifically designed to diagnose NHP2 gene dyskeratosis congenita autosomal recessive type 2. This test is a crucial step in confirming the diagnosis and understanding the specific mutation causing the disorder in an individual or family. The test involves a simple blood draw or cheek swab, which is then analyzed in our state-of-the-art laboratory.
The cost of the genetic test is 4400 AED. This price includes the collection of the sample, the genetic analysis, and a detailed report of the findings. Our expert team of genetic counselors is also available to provide guidance and support throughout the testing process, helping patients and families understand the results and their implications.
For more information on the test and to schedule an appointment, please visit our website at DNA Labs UAE.
Conclusion
Dyskeratosis congenita autosomal recessive type 2, caused by mutations in the NHP2 gene, is a complex disorder that requires comprehensive care and management. Early diagnosis through genetic testing is essential for managing symptoms and improving the quality of life for affected individuals. DNA Labs UAE is committed to providing accurate and reliable genetic testing services to aid in the diagnosis and understanding of this rare condition.
