Short Description

NGS genetic DNA test detecets for variant and mutation detection in PPOX gene for Porphyria variegata

PreTest Information

Clinical History of Patient who is going for PPOX Gene Porphyria variegata NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Porphyria variegata

Detail Description

PPOX Gene Porphyria Variegata NGS Genetic DNA Test

Porphyria Variegata is a rare genetic disorder that affects the production of heme, an important component of hemoglobin. It is caused by mutations in the PPOX gene, which provides instructions for making an enzyme called protoporphyrinogen oxidase. This enzyme is involved in the production of heme, which is essential for the transport of oxygen in the blood.

DNA Labs India offers PPOX Gene Porphyria Variegata NGS Genetic DNA Test at an affordable cost of INR 20000. This test uses Next Generation Sequencing (NGS) technology to analyze the PPOX gene and detect any mutations that may be present. It is a highly accurate and reliable test that can help diagnose Porphyria Variegata and guide appropriate treatment.

Symptoms of Porphyria Variegata

• Abdominal pain
• Constipation or diarrhea
• Nausea and vomiting
• Difficulty breathing
• Photosensitivity
• Blistering and scarring of the skin

The symptoms of Porphyria Variegata can vary widely from person to person. Some people may experience mild symptoms, while others may have severe and life-threatening complications. It is important to seek medical attention if you experience any of these symptoms.

Diagnosis of Porphyria Variegata

Diagnosing Porphyria Variegata can be challenging, as the symptoms can be similar to those of other conditions. However, DNA testing can help confirm a diagnosis. The PPOX Gene Porphyria Variegata NGS Genetic DNA Test offered by DNA Labs India is a highly accurate and reliable way to diagnose this condition.

If you suspect that you or a loved one may have Porphyria Variegata, talk to your doctor about getting tested. With early diagnosis and appropriate treatment, it is possible to manage the symptoms and improve quality of life.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PPOX Gene Porphyria variegata NGS Genetic DNA Test