Achondrogenesis Type 2, caused by mutations in the COL2A1 gene, is a severe disorder that affects the development of bones and cartilage in the body. This rare genetic condition is part of a group of disorders known as chondrodysplasias, which lead to skeletal abnormalities through the disruption of the normal process of bone growth. Understanding the symptoms of Achondrogenesis Type 2 is crucial for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for Achondrogenesis Type 2, aiding in the accurate diagnosis of this condition.
Symptoms of COL2A1 Gene Achondrogenesis Type 2
The symptoms of Achondrogenesis Type 2 can be identified at birth or prenatally through ultrasound. These symptoms are a result of significantly impaired bone formation and growth, leading to a spectrum of skeletal abnormalities. The most common symptoms include:
- Shortened Limbs: One of the hallmark signs of Achondrogenesis Type 2 is disproportionately short arms and legs, which is evident at birth.
- Underdeveloped Torso: The chest and abdomen may appear underdeveloped compared to a healthy newborn, due to the poor development of the rib cage and other skeletal structures.
- Facial Abnormalities: Babies may have a prominent forehead, a flat nasal bridge, and an underdeveloped jaw, contributing to the distinctive facial features associated with this condition.
- Soft Skull: The bones in the skull may not fully harden, a condition known as craniosynostosis, making the head appear unusually soft and prone to shape abnormalities.
- Hydrops Fetalis: In severe cases, excessive fluid may accumulate in the body tissues and cavities, a condition known as hydrops fetalis, which can be life-threatening.
Due to the severity of the skeletal abnormalities, infants with Achondrogenesis Type 2 may experience respiratory difficulties due to underdeveloped lungs and a narrow chest cavity. This can lead to significant health complications shortly after birth.
COL2A1 Gene Achondrogenesis Type 2 Genetic Test at DNA Labs UAE
DNA Labs UAE is at the forefront of genetic testing, offering a specialized test for Achondrogenesis Type 2 caused by mutations in the COL2A1 gene. This test is pivotal for families seeking answers about this rare condition. By analyzing the COL2A1 gene, our laboratory can identify the specific mutations responsible for Achondrogenesis Type 2, providing crucial information for diagnosis, management, and genetic counseling.
The cost of the COL2A1 Gene Achondrogenesis Type 2 Genetic Test at DNA Labs UAE is 4400 AED. This comprehensive test is conducted by our team of experienced geneticists and laboratory technicians, ensuring accurate and reliable results. For more information about the test and to schedule an appointment, please visit our website at https://dnalabsuae.com/tests/col2a1-gene-achondrogenesis-type-2-genetic-test/.
Conclusion
Achondrogenesis Type 2 is a severe genetic condition that requires early diagnosis and comprehensive management. The symptoms of this disorder, caused by mutations in the COL2A1 gene, can lead to significant health challenges from birth. DNA Labs UAE provides a vital genetic testing service that can help families understand their risk and manage the condition effectively. With the support of advanced genetic testing, families affected by Achondrogenesis Type 2 can gain the knowledge they need to navigate the complexities of this condition.
