Short Description

NGS genetic DNA test detecets for variant and mutation detection in GALNT3 gene for Tumoral calcinosis, hyperphosphatemic, familial, type 1

PreTest Information

Clinical History of Patient who is going for GALNT3 Gene Tumoral calcinosis, hyperphosphatemic, familial, type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Tumoral calcinosis, hyperphosphatemic, familial, type 1

Detail Description

GALNT3 Gene Tumoral Calcinosis: Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India

Tumoral calcinosis is a rare genetic disorder that causes abnormal deposits of calcium in soft tissues such as tendons, ligaments, and muscles. Familial tumoral calcinosis is a subtype of this disorder that is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

GALNT3 gene is responsible for encoding a protein that regulates phosphate metabolism in the body. Mutations in this gene can result in hyperphosphatemic familial tumoral calcinosis type 1 (HFTC1), which is characterized by the formation of tumors composed of calcified masses in the soft tissues of the body.

Symptoms of GALNT3 Gene Tumoral Calcinosis

The symptoms of GALNT3 gene tumoral calcinosis may vary depending on the severity of the disorder. Common symptoms include:

• Abnormal deposits of calcium in soft tissues such as tendons, ligaments, and muscles
• Pain and stiffness in affected areas
• Reduced range of motion in joints
• Difficulty in movement
• Impaired kidney function

Diagnosis of GALNT3 Gene Tumoral Calcinosis

Diagnosis of GALNT3 gene tumoral calcinosis involves a combination of physical examination, imaging tests, and genetic testing. Physical examination may reveal the presence of calcified masses in the soft tissues of the body. Imaging tests such as X-rays, CT scans, and MRI scans may also be used to detect the presence of calcified masses.

Genetic testing is the most definitive method of diagnosing GALNT3 gene tumoral calcinosis. Next-generation sequencing (NGS) genetic DNA testing can be used to sequence the entire GALNT3 gene and identify mutations that may be responsible for the disorder.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for GALNT3 gene tumoral calcinosis in India may vary depending on the laboratory and location. On average, the cost of NGS genetic DNA testing for GALNT3 gene tumoral calcinosis in India may range from INR 20,000 to INR 30,000.

Conclusion

GALNT3 gene tumoral calcinosis is a rare genetic disorder that causes abnormal deposits of calcium in soft tissues. Familial tumoral calcinosis is a subtype of this disorder that is inherited in an autosomal recessive pattern. Symptoms of GALNT3 gene tumoral calcinosis may include abnormal deposits of calcium in soft tissues, pain and stiffness in affected areas, and reduced range of motion in joints. Diagnosis of GALNT3 gene tumoral calcinosis involves a combination of physical examination, imaging tests, and genetic testing. NGS genetic DNA testing can be used to sequence the entire GALNT3 gene and identify mutations that may be responsible for the disorder. The cost of NGS genetic DNA testing for GALNT3 gene tumoral calcinosis in India may range from INR 20,000 to INR 30,000.

If you suspect that you or a loved one may have GALNT3 gene tumoral calcinosis, it is important to seek medical attention as soon as possible.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GALNT3 Gene Tumoral calcinosis, hyperphosphatemic, familial, type 1 NGS Genetic DNA Test