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 ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic DNA Test gene ALAS2

Detail Description

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

Protoporphyria is a group of inherited disorders that affect the heme biosynthesis pathway. ALAS2 gene protoporphyria, erythropoietic, X-linked is a rare subtype of protoporphyria that affects mainly males. It is caused by mutations in the ALAS2 gene, which encodes an enzyme involved in the synthesis of heme.

Symptoms of ALAS2 Gene Protoporphyria

The symptoms of ALAS2 gene protoporphyria can vary from mild to severe and may include:

• Photosensitivity: sensitivity to sunlight and other sources of light
• Burning and itching of the skin
• Redness and swelling of the skin
• Blisters and scarring of the skin
• Pain and discomfort in the affected areas
• Anemia: a condition in which there are not enough red blood cells in the body

Diagnosis of ALAS2 Gene Protoporphyria

The diagnosis of ALAS2 gene protoporphyria is based on the clinical symptoms, family history, and genetic testing. A blood test can be done to measure the levels of porphyrins and other heme precursors in the blood. Genetic testing can confirm the presence of mutations in the ALAS2 gene.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for ALAS2 gene protoporphyria in India is approximately INR 20,000. This test can be done at specialized genetic testing laboratories or hospitals. The test involves sequencing the entire ALAS2 gene to identify any mutations that may be causing the disorder.

Conclusion

ALAS2 gene protoporphyria is a rare genetic disorder that affects the heme biosynthesis pathway. It is caused by mutations in the ALAS2 gene and can cause photosensitivity, skin burning, and anemia. The diagnosis of ALAS2 gene protoporphyria is based on clinical symptoms and genetic testing. The cost of NGS genetic DNA testing in India is approximately INR 20,000.

If you suspect that you or a family member may have ALAS2 gene protoporphyria, it is important to consult a genetic counselor or healthcare provider for proper diagnosis and management.

For more information about genetic testing and DNA labs in India, visit DNA Labs India.