Short Description

NGS genetic DNA test detecets for variant and mutation detection in HMBS gene for Porphyria acute intermittent

PreTest Information

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

Detail Description

HMBS Gene Porphyria Acute Intermittent NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost in India

Porphyria is a group of genetic disorders that affect the production of heme, a component of hemoglobin that carries oxygen in the blood. Porphyria can be acute or cutaneous, depending on the symptoms and the location of the affected tissues. Acute porphyria is a rare condition that can cause severe abdominal pain, muscle weakness, and confusion. It is caused by mutations in different genes, including the HMBS gene.

The HMBS gene provides instructions for making an enzyme called hydroxymethylbilane synthase, which is involved in the production of heme. Mutations in the HMBS gene can impair the function of this enzyme and lead to the accumulation of toxic intermediates that can cause damage to the nervous system and other organs.

Symptoms of HMBS Gene Porphyria Acute Intermittent

The symptoms of HMBS gene porphyria acute intermittent can vary from person to person and may include:

• Abdominal pain
• Nausea and vomiting
• Muscle weakness and cramps
• Confusion and hallucinations
• Sensitivity to light and skin rashes

These symptoms can be triggered by certain factors, such as fasting, stress, infections, and medications. Therefore, it is important to identify the underlying genetic cause of acute porphyria to avoid these triggers and prevent complications.

Diagnosis of HMBS Gene Porphyria Acute Intermittent

The diagnosis of HMBS gene porphyria acute intermittent involves several steps, including:

• Medical history and physical examination
• Urine and blood tests to detect the presence of porphyrins and their precursors
• Genetic testing to identify mutations in the HMBS gene

Genetic testing can be done using different methods, such as Sanger sequencing and next-generation sequencing (NGS). NGS is a faster and more comprehensive method that can analyze multiple genes simultaneously and detect rare variants that may be missed by other methods.

Cost of HMBS Gene Porphyria Acute Intermittent NGS Genetic DNA Test in India

The cost of HMBS gene porphyria acute intermittent NGS genetic DNA test in India may vary depending on the laboratory and the type of test. Generally, the cost ranges from INR 20,000 to INR 30,000.

DNA Labs India is a leading provider of genetic testing services in India that offers a wide range of NGS-based tests for different genetic disorders, including porphyria. Their HMBS gene porphyria acute intermittent NGS genetic DNA test is accurate, reliable, and affordable, and can provide valuable information for the diagnosis, management, and prevention of this rare condition.

Conclusion

HMBS gene porphyria acute intermittent is a rare genetic disorder that can cause severe symptoms and complications if not properly diagnosed and treated. Genetic testing, especially NGS-based testing, can be a valuable tool for identifying the underlying genetic cause of acute porphyria and providing personalized care for affected individuals and their families.

If you suspect that you or a loved one may have HMBS gene porphyria acute intermittent, talk to your healthcare provider or contact DNA Labs India for more information about their genetic testing services.

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 HMBS Gene Porphyria acute intermittent NGS Genetic DNA Test