Short Description

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

PreTest Information

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

Detail Description

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

ALPL Gene Hypophosphatasia is a rare genetic disorder that affects bone mineralization and enzyme function. It is caused by mutations in the ALPL gene, which encodes for an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP). This enzyme is responsible for the mineralization of bones and teeth, and its dysfunction leads to a range of symptoms.

Symptoms of ALPL Gene Hypophosphatasia

The severity of symptoms varies depending on the specific mutation and age of onset. Some common symptoms of ALPL Gene Hypophosphatasia include:

• Soft and weak bones (osteomalacia)
• Fractures
• Delayed growth
• Dental problems, such as early loss of teeth
• Muscle weakness
• Respiratory problems
• Seizures

Diagnosis of ALPL Gene Hypophosphatasia

ALPL Gene Hypophosphatasia can be diagnosed through a combination of clinical evaluation, laboratory tests, and genetic testing. A physical exam may reveal signs of bone or dental abnormalities, while laboratory tests can detect low levels of alkaline phosphatase in the blood. Genetic testing is the most definitive method of diagnosis, as it can identify specific mutations in the ALPL gene.

NGS Genetic DNA Test Cost in India

Next-generation sequencing (NGS) is a powerful tool for genetic testing, as it can analyze multiple genes simultaneously. The cost of NGS genetic DNA testing for ALPL Gene Hypophosphatasia in India is approximately INR 20,000. This may vary depending on the specific laboratory and testing method used.

Conclusion

ALPL Gene Hypophosphatasia is a rare genetic disorder that can cause a range of symptoms related to bone and dental health. Diagnosis typically involves a combination of clinical evaluation, laboratory tests, and genetic testing. NGS genetic DNA testing is a reliable and cost-effective method of identifying specific mutations in the ALPL gene.

If you suspect that you or a loved one may have ALPL Gene Hypophosphatasia, it is important to seek medical attention and consider genetic testing to confirm the diagnosis.

The ALPL gene encodes the enzyme alkaline phosphatase (ALP), which plays a crucial role in mineralizing bones and teeth by regulating the levels of inorganic phosphate and calcium in the body. Mutations in the ALPL gene can lead to a rare genetic disorder known as hypophosphatasia (HPP), characterized by impaired bone and tooth mineralization. HPP can vary in its severity and clinical manifestations, ranging from mild forms to severe forms that can lead to significant skeletal and dental abnormalities.