Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC7A7 gene for LYSINURIC PROTEIN INTOLERANCE

PreTest Information

Clinical History of Patient who is going for SLC7A7 Gene LYSINURIC PROTEIN INTOLERANCE NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC7A7 Gene LYSINURIC PROTEIN INTOLERANCE NGS Genetic DNA Test gene SLC7A7

Detail Description

SLC7A7 Gene LYSINURIC PROTEIN INTOLERANCE NGS Genetic DNA Test

LYSINURIC PROTEIN INTOLERANCE is a rare genetic disorder that affects the body's ability to break down certain amino acids. This disorder is caused by mutations in the SLC7A7 gene, which provides instructions for making a protein that transports amino acids across cell membranes. When this protein is not working correctly, amino acids accumulate in the blood and can cause a range of symptoms.

Symptoms of Lysinuric Protein Intolerance

The symptoms of Lysinuric Protein Intolerance can vary widely from person to person, but some common symptoms include:

• Vomiting
• Diarrhea
• Failure to thrive
• Delayed growth and development
• Weakness and fatigue
• Increased susceptibility to infections

Diagnosis of Lysinuric Protein Intolerance

Diagnosis of Lysinuric Protein Intolerance can be challenging because the symptoms can be similar to those of other conditions. However, a genetic test can confirm the diagnosis by identifying mutations in the SLC7A7 gene. This test can be performed using Next-Generation Sequencing (NGS) technology, which can sequence large amounts of DNA quickly and accurately.

Cost of the Test

The cost of the NGS genetic DNA test for Lysinuric Protein Intolerance is INR 20,000. DNA Labs India offers this test along with a range of other genetic tests to help diagnose and manage genetic disorders.

Conclusion

Lysinuric Protein Intolerance is a rare genetic disorder that can cause a range of symptoms. Early diagnosis is important to ensure that appropriate treatment can be provided. The NGS genetic DNA test offered by DNA Labs India can help diagnose this condition quickly and accurately, allowing for prompt treatment and management of symptoms.

If you suspect that you or a loved one may have Lysinuric Protein Intolerance, consider talking to your healthcare provider about genetic testing. DNA Labs India can provide the necessary testing and support to help you manage this condition.