Short Description

NGS genetic DNA test detecets for variant and mutation detection in FECH gene for Protoporphyria, erythropoietic type 1

PreTest Information

Clinical History of Patient who is going for FECH Gene Protoporphyria, erythropoietic type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FECH Gene Protoporphyria, erythropoietic type 1 NGS Genetic DNA Test gene FECH

Detail Description

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

Protoporphyria is a genetic disorder that affects the production of heme, a component of hemoglobin that carries oxygen in the blood. FECH gene protoporphyria, erythropoietic type 1, is a rare subtype of the disorder that can cause severe skin sensitivity and pain when exposed to sunlight.

Symptoms of FECH Gene Protoporphyria

FECH gene protoporphyria symptoms typically develop in childhood and can include:

• Severe skin sensitivity to sunlight
• Burning or itching sensations on the skin
• Redness and swelling of the skin
• Blisters and scarring of the skin
• Stomach pain and nausea

These symptoms can be triggered by exposure to sunlight or other sources of light, such as fluorescent lights or tanning beds. In severe cases, the symptoms can be debilitating and affect a person's quality of life.

Diagnosis of FECH Gene Protoporphyria

FECH gene protoporphyria can be diagnosed through a genetic DNA test, which looks for mutations in the FECH gene that are associated with the disorder. A blood sample is typically taken and sent to a laboratory for analysis. A genetic counselor or healthcare provider can help determine if genetic testing is appropriate.

In addition to genetic testing, a doctor may perform a physical examination and review a person's medical history to help diagnose FECH gene protoporphyria. Other tests, such as a skin biopsy or urine test, may also be used to confirm a diagnosis.

NGS Genetic DNA Test Cost in India

The cost of an NGS genetic DNA test for FECH gene protoporphyria in India can vary depending on the laboratory and testing facility. On average, the cost of the test can range from INR 15,000 to INR 25,000. It is important to check with the laboratory or healthcare provider to determine the exact cost of the test.

It is also important to note that insurance may cover the cost of genetic testing, depending on the policy and the reason for the testing. A genetic counselor or healthcare provider can help determine if insurance coverage is available.

Conclusion

FECH gene protoporphyria is a rare genetic disorder that can cause severe skin sensitivity and pain when exposed to sunlight. Genetic DNA testing can help diagnose the disorder and determine appropriate treatment options. The cost of testing can vary, but it is important to check with the laboratory or healthcare provider to determine the exact cost and insurance coverage options.

Protoporphyria, erythropoietic type 1 (also known as Erythropoietic Protoporphyria or EPP), is a rare genetic disorder that affects the heme biosynthesis pathway, leading to the accumulation of protoporphyrin in the body. This condition is caused by mutations in the FECH gene (ferrochelatase gene), which encodes an enzyme involved in the final step of heme production.

Heme is a crucial component of hemoglobin and other proteins that transport oxygen in red blood cells. Mutations in the FECH gene can result in decreased activity of the ferrochelatase enzyme, leading to the buildup of protoporphyrin in the blood, skin, and other tissues. Exposure to sunlight can trigger painful skin reactions in individuals with EPP.

An NGS (Next-Generation Sequencing) genetic DNA test for the FECH gene involves sequencing the DNA to identify any mutations or variations within the gene that could be linked to Erythropoietic Protoporphyria. This testing can help diagnose the condition and identify individuals who carry mutations in the FECH gene.

If you suspect that you or someone you know may have Erythropoietic Protoporphyria or if there's a family history of the condition, it's important to consult with a medical geneticist, dermatologist, or medical professional familiar with porphyria disorders. They can guide you through the genetic testing process, interpret the results, and provide appropriate recommendations for management and treatment based on the specific genetic findings. Treatment may involve measures to minimize sun exposure and manage symptoms.