Short Description

NGS genetic DNA test detecets for variant and mutation detection in UROD gene for Porphyria cutanea tarda

PreTest Information

Clinical History of Patient who is going for UROD Gene Porphyria cutanea tarda NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with UROD Gene Porphyria cutanea tarda NGS Genetic DNA Test gene UROD

Detail Description

UROD Gene Porphyria Cutanea Tarda NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Porphyria Cutanea Tarda (PCT) is a rare genetic disorder that is caused by the deficiency of the enzyme Uroporphyrinogen Decarboxylase (UROD) which is responsible for the synthesis of heme. PCT is characterized by the accumulation of porphyrins in the liver which results in skin photosensitivity and blistering. It is a hereditary disease that is inherited in an autosomal dominant manner.

Symptoms of Porphyria Cutanea Tarda

The symptoms of PCT include:

• Photosensitivity
• Blisters on the skin
• Scarring of the skin
• Hyperpigmentation of the skin
• Increased hair growth on the face
• Enlarged liver
• Abdominal pain
• Dark urine

Diagnosis of Porphyria Cutanea Tarda

The diagnosis of PCT involves:

• Physical examination
• Medical history
• Urinary porphyrin analysis
• Genetic testing

UROD Gene Porphyria Cutanea Tarda NGS Genetic DNA Test

The UROD Gene Porphyria Cutanea Tarda NGS Genetic DNA Test is a genetic test that analyzes the UROD gene for mutations that are associated with PCT. The test uses Next-Generation Sequencing (NGS) technology to detect mutations in the UROD gene. The test is performed on a blood sample.

Cost of UROD Gene Porphyria Cutanea Tarda NGS Genetic DNA Test

The cost of the UROD Gene Porphyria Cutanea Tarda NGS Genetic DNA Test is INR:20000. The cost may vary depending on the laboratory that performs the test.

Conclusion

The UROD Gene Porphyria Cutanea Tarda NGS Genetic DNA Test is a useful tool for the diagnosis of PCT. The test is non-invasive and can be performed on a blood sample. The cost of the test may vary depending on the laboratory that performs the test. If you have any symptoms of PCT, it is important to consult a healthcare professional for proper diagnosis and treatment.

If you are looking for a reliable and accurate laboratory for the UROD Gene Porphyria Cutanea Tarda NGS Genetic DNA Test, DNA Labs India is the right choice. They offer high-quality genetic testing services at an affordable cost. Contact them today to learn more.