Short Description

NGS genetic DNA test detecets for variant and mutation detection in TRPM6 gene for Hypomagnesemia type 1

PreTest Information

Clinical History of Patient who is going for TRPM6 Gene Hypomagnesemia type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hypomagnesemia type 1

Detail Description

TRPM6 Gene Hypomagnesemia Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

TRPM6 gene hypomagnesemia type 1 is a rare genetic disorder that affects the body's ability to absorb magnesium from the food we eat. Magnesium is an important mineral that plays a key role in many bodily functions, including muscle and nerve function, heart rhythm, and bone strength. This disorder is caused by mutations in the TRPM6 gene, which provides instructions for making a protein that helps transport magnesium into the bloodstream.

Symptoms of TRPM6 Gene Hypomagnesemia Type 1

People with TRPM6 gene hypomagnesemia type 1 can experience a range of symptoms, which can vary in severity. The most common symptoms include:

• Muscle weakness and cramps
• Seizures
• Tetany (painful muscle spasms)
• Abnormal heart rhythm
• Low calcium levels
• Osteoporosis (weak bones)

The severity of these symptoms can range from mild to severe, and can be life-threatening if left untreated. It is important to seek medical attention if you or a loved one experiences any of these symptoms.

Diagnosing TRPM6 Gene Hypomagnesemia Type 1

If your doctor suspects that you or a loved one may have TRPM6 gene hypomagnesemia type 1, they may recommend genetic testing. This involves taking a sample of blood or saliva to test for mutations in the TRPM6 gene. A positive test result confirms the diagnosis.

NGS Genetic DNA Test Cost INR:20000

The cost of NGS genetic DNA testing for TRPM6 gene hypomagnesemia type 1 in India is approximately INR 20000. This cost may vary depending on the specific testing provider and location.

Treatment for TRPM6 Gene Hypomagnesemia Type 1

There is currently no cure for TRPM6 gene hypomagnesemia type 1. Treatment focuses on managing symptoms and preventing complications. This may include:

• Magnesium supplements
• Calcium supplements
• Vitamin D supplements
• Bisphosphonate therapy (for osteoporosis)

Your doctor may also recommend lifestyle changes, such as eating a diet rich in magnesium and avoiding alcohol and caffeine.

Conclusion

TRPM6 gene hypomagnesemia type 1 is a rare genetic disorder that affects the body's ability to absorb magnesium. It can cause a range of symptoms, including muscle weakness, seizures, and abnormal heart rhythm. Genetic testing can confirm a diagnosis, and treatment focuses on managing symptoms and preventing complications. NGS genetic DNA testing for TRPM6 gene hypomagnesemia type 1 in India costs approximately INR 20000.

If you or a loved one are experiencing symptoms of TRPM6 gene hypomagnesemia type 1, it is important to seek medical attention. Early diagnosis and treatment can help manage symptoms and prevent complications.

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 TRPM6 Gene Hypomagnesemia type 1 NGS Genetic DNA Test