Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALAD gene for Acute hepatic porphyria

PreTest Information

Clinical History of Patient who is going for ALAD Gene Acute hepatic porphyria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Acute hepatic porphyria

Detail Description

ALAD Gene Acute Hepatic Porphyria NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Acute Hepatic Porphyria (AHP) is a rare genetic condition that affects the production of heme, a vital component of hemoglobin. The condition results from a deficiency in one of the enzymes involved in heme synthesis. ALAD is one such enzyme, and mutations in the ALAD gene are known to cause AHP in some individuals.

Diagnosis of AHP can be challenging, as symptoms can vary widely and may mimic other conditions. However, with the advent of Next-Generation Sequencing (NGS) technology, it has become possible to identify genetic mutations associated with AHP quickly and accurately.

Symptoms of Acute Hepatic Porphyria

The symptoms of AHP can be divided into three categories: acute attacks, chronic symptoms, and cutaneous symptoms. Acute attacks are the most severe and can be life-threatening. They include:

• Abdominal pain
• Nausea and vomiting
• Tachycardia (rapid heartbeat)
• Hyponatremia (low sodium levels in the blood)
• Seizures
• Psychiatric symptoms (anxiety, depression, hallucinations)

Chronic symptoms of AHP include:

• Chronic pain
• Fatigue
• Peripheral neuropathy (nerve damage)
• Hypertension (high blood pressure)

Cutaneous symptoms of AHP include:

• Photosensitivity (sensitivity to sunlight)
• Blisters and skin fragility
• Hypertrichosis (excessive hair growth)

Diagnosis of Acute Hepatic Porphyria

Diagnosis of AHP typically involves a combination of clinical evaluation, laboratory tests, and genetic testing. Laboratory tests can help identify elevated levels of porphyrins and other metabolites in the urine and blood. Genetic testing can help identify mutations in the ALAD gene and other genes associated with AHP.

NGS Genetic DNA Test for ALAD Gene Acute Hepatic Porphyria

NGS technology allows for the rapid and accurate identification of genetic mutations associated with AHP, including mutations in the ALAD gene. The test involves sequencing the DNA of the patient and comparing it to a reference genome to identify mutations. The test can be performed using a blood or saliva sample.

Cost of NGS Genetic DNA Test for ALAD Gene Acute Hepatic Porphyria

The cost of the NGS genetic DNA test for ALAD gene acute hepatic porphyria in India is INR:20000. The test is typically covered by insurance, although coverage may vary depending on the insurance provider.

Conclusion

NGS genetic DNA testing is a valuable tool for the diagnosis of ALAD gene acute hepatic porphyria. The test is quick, accurate, and can help identify mutations that may be missed by other diagnostic methods. The cost of the test is reasonable and is typically covered by insurance. If you suspect you may have AHP, talk to your doctor about whether NGS genetic DNA testing is right for you.

I understand your request. Acute hepatic porphyria is a group of genetic disorders characterized by the abnormal accumulation of porphyrins, which are compounds involved in the production of heme, a component of hemoglobin. These disorders can cause a range of symptoms, including abdominal pain, neurological issues, and skin sensitivity to sunlight.