Short Description

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

PreTest Information

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

Detail Description

ALPL Gene Hypophosphatasia: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Hypophosphatasia is a rare genetic disorder that affects the development and maintenance of bones and teeth. The disease is caused by mutations in the ALPL gene, which encodes an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP). TNSALP is responsible for breaking down a molecule called inorganic pyrophosphate, which is a natural inhibitor of bone mineralization. When TNSALP is deficient, inorganic pyrophosphate accumulates and interferes with bone mineralization, resulting in weak and brittle bones.

Symptoms of Hypophosphatasia

The symptoms of hypophosphatasia can vary widely depending on the severity of the disease. In some cases, the disease is so mild that it goes unnoticed, while in others, it can be life-threatening. The most common symptoms of hypophosphatasia include:

• Soft or weak bones that are prone to fractures
• Dental problems, such as premature loss of teeth and delayed tooth formation
• Muscle weakness and pain
• Short stature
• Breathing problems
• Seizures
• Developmental delays

Diagnosis of Hypophosphatasia

Diagnosis of hypophosphatasia can be challenging because the symptoms can be similar to other bone disorders. However, there are several tests that can help diagnose the disease, including:

• Blood tests to measure levels of ALP and inorganic pyrophosphate
• X-rays to check for abnormalities in bone structure
• Genetic testing to identify mutations in the ALPL gene
• Enzyme activity testing to measure TNSALP activity

NGS Genetic DNA Test Cost

Next-generation sequencing (NGS) is a powerful tool that can be used to analyze the DNA sequence of the ALPL gene and identify mutations that cause hypophosphatasia. The cost of NGS genetic DNA testing for hypophosphatasia in India is approximately INR 20,000. This test can provide valuable information for patients and their families, including:

• Confirmation of a diagnosis
• Predictive testing for family members
• Identification of carriers
• Guidance for reproductive decisions
• Insight into disease severity and prognosis

Conclusion

Hypophosphatasia is a rare genetic disorder that can cause significant health problems if left untreated. Early diagnosis and treatment can improve outcomes for patients with the disease. NGS genetic DNA testing can provide valuable information for patients and their families and is a cost-effective way to confirm a diagnosis and guide treatment decisions.

At DNA Labs India, we offer NGS genetic DNA testing for hypophosphatasia and other genetic disorders. Our team of experts uses the latest technology and techniques to provide accurate and timely results. Contact us today to learn more about our services.