Understanding the intricate workings of our genetic makeup can lead to significant insights into various health conditions that affect individuals from birth. One such condition is Hypophosphatemic Rickets with Hypercalciuria (HHRH), caused by mutations in the SLC34A3 gene. This condition is a rare but severe disorder that affects the bones, leading to rickets in children and osteomalacia in adults. DNA Labs UAE is at the forefront of diagnosing this condition through the SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria Genetic Test, priced at 4400 AED. For more information, visit DNA Labs UAE.
Symptoms of SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria
The SLC34A3 gene plays a crucial role in phosphate absorption and vitamin D metabolism in the kidneys. Mutations in this gene can lead to an imbalance in phosphate and calcium levels in the body, manifesting as various symptoms. Recognizing these symptoms early can lead to timely intervention and management of the condition.
- Bone Pain and Tenderness: One of the earliest signs of HHRH is pain and tenderness in the bones. This is due to the weakening of bones caused by insufficient mineralization.
- Muscle Weakness: Individuals with this condition may experience muscle weakness, which can affect mobility and daily activities.
- Bowing of the Legs: In children, a common symptom is the bowing of the legs, which is a result of the softening of the bones.
- Height Growth Delay: Children with HHRH may also exhibit a delay in height growth compared to their peers, a direct consequence of the bone abnormalities associated with the condition.
- Frequent Bone Fractures: The weakened state of the bones makes them more susceptible to fractures, even with minor trauma.
- Dental Problems: Dental issues, including delayed tooth eruption and increased susceptibility to cavities, can also be a symptom of HHRH.
SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria Genetic Test
The SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria Genetic Test offered by DNA Labs UAE is a comprehensive diagnostic tool that can identify mutations in the SLC34A3 gene. This test is crucial for confirming the diagnosis of HHRH, enabling healthcare providers to develop an effective treatment plan tailored to the individual’s needs. Priced at 4400 AED, the test is a valuable investment in understanding and managing this condition.
Conclusion
Hypophosphatemic Rickets with Hypercalciuria is a condition that, while rare, can significantly impact the quality of life if not diagnosed and managed properly. Recognizing the symptoms early and undergoing genetic testing can provide individuals and their families with the necessary information to tackle this condition head-on. DNA Labs UAE is dedicated to providing accessible and reliable genetic testing services, including the SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria Genetic Test, to support individuals in their journey towards better health. For more details and to book a test, visit DNA Labs UAE.
