Short Description

NGS genetic DNA test detecets for variant and mutation detection in CACNA1S gene for Hypokalemic periodic paralysis type 1

PreTest Information

Clinical History of Patient who is going for CACNA1S Gene Hypokalemic periodic paralysis type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CACNA1S Gene Hypokalemic periodic paralysis type 1

Detail Description

CACNA1S Gene Hypokalemic Periodic Paralysis Type 1 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Hypokalemic periodic paralysis (HPP) is a rare genetic disorder that affects skeletal muscles, causing them to become weak or paralyzed during episodes of low potassium levels in the blood. The condition is often caused by mutations in the CACNA1S gene, which encodes a protein that regulates the movement of calcium ions in muscle cells.

If you suspect that you or a loved one may have HPP, it is important to seek medical attention and get a proper diagnosis. A genetic test can confirm whether the CACNA1S gene is mutated and help guide treatment decisions.

Symptoms of HPP

The symptoms of HPP can vary in severity and frequency, but typically include:

• Muscle weakness or paralysis, often affecting the legs or arms
• Episodes of muscle stiffness or cramping
• Difficulty breathing or swallowing
• Abnormal heart rhythms
• Fatigue or weakness after exercise or activity

These symptoms can be triggered by a variety of factors, such as stress, exercise, or certain medications.

Diagnosing HPP

Diagnosing HPP can be challenging, as the symptoms can mimic those of other conditions such as stroke or seizure. A thorough medical history and physical exam can help rule out other causes of muscle weakness or paralysis.

A genetic test is the most definitive way to diagnose HPP. The test involves analyzing a sample of DNA, typically obtained through a blood or saliva sample, to look for mutations in the CACNA1S gene.

NGS Genetic DNA Test for HPP

Next-generation sequencing (NGS) is a powerful tool for genetic testing that allows for the simultaneous analysis of multiple genes. DNA Labs India offers an NGS genetic test for HPP that analyzes several genes associated with the condition, including CACNA1S.

The test costs INR 20,000 and typically takes several weeks to process. Results are provided in a detailed report that includes information on any identified mutations and their potential clinical significance.

Conclusion

If you or a loved one are experiencing symptoms of HPP, it is important to seek medical attention and consider genetic testing. The NGS genetic test offered by DNA Labs India can provide valuable information for diagnosis and treatment of this rare and complex condition.