Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALPL gene for Hypophosphatasia, childhood

PreTest Information

Clinical History of Patient who is going for ALPL Gene Hypophosphatasia, childhood NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hypophosphatasia, childhood

Detail Description

Understanding ALPL Gene Hypophosphatasia: Symptoms, Diagnosis and Childhood NGS Genetic DNA Test Cost in India

Hypophosphatasia is a rare genetic disorder that affects the bones and teeth. It is caused by mutations in the ALPL gene, which provides instructions for making an enzyme called alkaline phosphatase. This enzyme plays a critical role in the development and maintenance of bones and teeth.

Symptoms of Hypophosphatasia

The symptoms of hypophosphatasia can vary widely, depending on the severity of the disease. Some of the most common symptoms include:

• Weak and fragile bones
• Short stature
• Bow legs
• Skeletal deformities
• Chronic pain
• Tooth loss and other dental problems

These symptoms can be present at birth, or they can develop later in life. In some cases, hypophosphatasia may be mild and go unnoticed for many years. In other cases, it can be severe and life-threatening.

Diagnosis of Hypophosphatasia

Diagnosing hypophosphatasia can be challenging, as the symptoms can be similar to those of other bone and dental disorders. However, there are several tests that can be used to diagnose the disease, including:

• Blood tests to check for low levels of alkaline phosphatase
• X-rays and bone scans to look for bone abnormalities
• Dental exams to check for tooth decay and other problems
• Genetic testing to look for mutations in the ALPL gene

If hypophosphatasia is suspected, it is important to see a specialist who can make an accurate diagnosis and develop a treatment plan.

Childhood NGS Genetic DNA Test Cost in India

Next-generation sequencing (NGS) is a powerful tool for diagnosing genetic disorders like hypophosphatasia. This type of test can analyze large amounts of DNA in a short amount of time, making it faster and more accurate than traditional genetic testing methods.

The cost of a childhood NGS genetic DNA test in India can vary depending on the laboratory and the specific test being performed. However, on average, the cost of a test for hypophosphatasia can range from INR 15,000 to INR 25,000.

Conclusion

Hypophosphatasia is a rare genetic disorder that can cause significant health problems. However, with early diagnosis and appropriate treatment, many of these problems can be managed. If you suspect that you or your child may have hypophosphatasia, it is important to see a specialist who can make an accurate diagnosis and develop a treatment plan.

At DNA Labs India, we offer a range of genetic testing services, including NGS testing for hypophosphatasia. Our team of experts can help you understand your test results and develop a personalized treatment plan that meets your unique needs.