Short Description

NGS genetic DNA test detecets for variant and mutation detection in AMPD3 gene for AMP deaminase deficiency, erythrocytic

PreTest Information

Clinical History of Patient who is going for AMPD3 Gene AMP deaminase deficiency, erythrocytic NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AMP deaminase deficiency, erythrocytic

Detail Description

AMPD3 Gene AMP Deaminase Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

AMPD3 gene AMP deaminase deficiency is a rare genetic condition that affects the body's ability to produce energy during exercise or stress. It is caused by a mutation in the AMPD3 gene, which provides instructions for making an enzyme called AMP deaminase.

Symptoms of AMPD3 Gene AMP Deaminase Deficiency

The symptoms of AMPD3 gene AMP deaminase deficiency vary from person to person. Some people may not experience any symptoms, while others may experience:

• Muscle pain and weakness
• Cramping
• Fatigue
• Shortness of breath
• Abnormal heart rhythms

These symptoms may be more pronounced during exercise or stress.

Diagnosis of AMPD3 Gene AMP Deaminase Deficiency

AMPD3 gene AMP deaminase deficiency can be diagnosed through a genetic test. This test looks for mutations in the AMPD3 gene. The test is done using a sample of blood or saliva.

If you have symptoms of AMPD3 gene AMP deaminase deficiency, your doctor may also do other tests, such as:

• Electrocardiogram (ECG) to check for abnormal heart rhythms
• Blood tests to check for elevated levels of creatine kinase, a muscle enzyme that is released when muscles are damaged

NGS Genetic DNA Test Cost for AMPD3 Gene AMP Deaminase Deficiency

The cost of NGS genetic DNA testing for AMPD3 gene AMP deaminase deficiency in India is around INR 20,000. This test uses next-generation sequencing (NGS) technology to look for mutations in the AMPD3 gene.

NGS genetic DNA testing is a highly accurate and efficient way to diagnose genetic conditions. It can also be used to screen family members of someone with AMPD3 gene AMP deaminase deficiency to see if they are carriers of the gene mutation.

Conclusion

AMPD3 gene AMP deaminase deficiency is a rare genetic condition that can cause muscle pain, weakness, and other symptoms. It can be diagnosed through a genetic test, which is available in India for a cost of around INR 20,000. If you have symptoms of AMPD3 gene AMP deaminase deficiency, it is important to talk to your doctor about getting tested.

At DNA Labs India, we offer NGS genetic DNA testing for AMPD3 gene AMP deaminase deficiency and other genetic conditions. Our tests are highly accurate and confidential, and our team of experts is always available to answer your questions. Contact us today to learn more.