Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALAS2 gene for Protoporphyria, erythropoietic, X-linked

PreTest Information

Clinical History of Patient who is going for ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Protoporphyria, erythropoietic, X-linked

Detail Description

ALAS2 Gene Protoporphyria: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

ALAS2 Gene Protoporphyria, also known as erythropoietic protoporphyria, is a rare genetic disorder that affects the production of heme, a component of hemoglobin that carries oxygen in the blood. This disorder is caused by mutations in the ALAS2 gene, which leads to a buildup of protoporphyrin in the body. The symptoms of ALAS2 Gene Protoporphyria can range from mild to severe and can include:

• Sensitivity to sunlight
• Painful skin rash
• Blisters and scarring
• Liver damage
• Gallstones

ALAS2 Gene Protoporphyria is an X-linked disorder, which means it primarily affects males. However, females can also be carriers of the gene mutation and may experience mild symptoms.

Diagnosis

The diagnosis of ALAS2 Gene Protoporphyria is typically made through a combination of clinical evaluation, family history, and genetic testing. A blood test can detect elevated levels of protoporphyrin, and genetic testing can confirm the presence of mutations in the ALAS2 gene.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA testing for ALAS2 Gene Protoporphyria in India is approximately INR 20,000. This test is performed using next-generation sequencing technology, which allows for the analysis of multiple genes simultaneously.

Conclusion

ALAS2 Gene Protoporphyria is a rare genetic disorder that can cause significant morbidity. Early diagnosis and genetic testing can help individuals with this disorder to manage their symptoms and prevent complications. If you or a loved one are experiencing symptoms of ALAS2 Gene Protoporphyria, consult with a healthcare professional to determine the appropriate diagnostic and treatment options.

For more information on genetic testing and DNA analysis services in India, contact DNA Labs India.