Short Description

NGS genetic DNA test detecets for variant and mutation detection in CACNA1S gene for Malignant hyperthermia type 5

PreTest Information

Clinical History of Patient who is going for CACNA1S Gene Malignant hyperthermia type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CACNA1S Gene Malignant hyperthermia type 5

Detail Description

CACNA1S Gene Malignant Hyperthermia Type 5 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Are you or a loved one experiencing unexplained fever, muscle rigidity, and rapid heart rate during anesthesia or after taking certain medications? These symptoms could be an indication of malignant hyperthermia, a rare but potentially fatal condition triggered by certain drugs used during anesthesia. The CACNA1S gene is one of the genes associated with malignant hyperthermia type 5. Fortunately, a genetic DNA test can help diagnose this condition and help you take preventative measures. DNA Labs India offers the CACNA1S gene malignant hyperthermia type 5 NGS genetic DNA test at a cost of INR 20000.

What is Malignant Hyperthermia?

Malignant hyperthermia is a rare but life-threatening reaction to certain drugs used during anesthesia. It is estimated that 1 in 5,000 to 1 in 50,000 patients are at risk of developing malignant hyperthermia. The condition is triggered when certain drugs cause a rapid and sustained increase in calcium levels in the muscle cells, leading to muscle rigidity, fever, and rapid heart rate. If not promptly treated, malignant hyperthermia can lead to kidney failure, brain damage, and even death.

What is the CACNA1S Gene?

The CACNA1S gene is located on chromosome 1 and codes for a protein called the alpha-1 subunit of the L-type voltage-gated calcium channel. This protein is essential for regulating calcium levels in muscle cells, including the muscles used for breathing and movement. Mutations in the CACNA1S gene can cause an overactive calcium channel, leading to muscle rigidity and malignant hyperthermia.

Symptoms of Malignant Hyperthermia

The symptoms of malignant hyperthermia can vary from person to person but typically include:

• Unexplained fever
• Muscle rigidity
• Rapid heart rate
• Rapid breathing
• Sweating
• Dark urine

If you or a loved one experience any of these symptoms during or after anesthesia, seek medical attention immediately.

Diagnosing Malignant Hyperthermia

Diagnosing malignant hyperthermia can be challenging since the symptoms are similar to other conditions that can occur during anesthesia. However, a genetic DNA test can help diagnose malignant hyperthermia type 5 caused by mutations in the CACNA1S gene. The test involves collecting a small blood sample and analyzing the DNA for mutations in the CACNA1S gene.

Cost of CACNA1S Gene Malignant Hyperthermia Type 5 NGS Genetic DNA Test

The cost of the CACNA1S gene malignant hyperthermia type 5 NGS genetic DNA test at DNA Labs India is INR 20000. This cost includes the collection of a small blood sample, analysis of the DNA for mutations in the CACNA1S gene, and a detailed report of the results.

Conclusion

Malignant hyperthermia is a rare but potentially life-threatening condition that can be triggered by certain drugs used during anesthesia. The CACNA1S gene is one of the genes associated with malignant hyperthermia type 5. A genetic DNA test can help diagnose this condition and help you take preventative measures. DNA Labs India offers the CACNA1S gene malignant hyperthermia type 5 NGS genetic DNA test at a cost of INR 20000. If you or a loved one experience unexplained fever, muscle rigidity, and rapid heart rate during or after anesthesia, seek medical attention immediately and consider getting tested for malignant hyperthermia.