Short Description

NGS genetic DNA test detecets for variant and mutation detection in DBH gene for Dopamine beta-hydroxylase (DBH) deficiency

PreTest Information

Clinical History of Patient who is going for DBH Gene Dopamine beta-hydroxylase (DBH) deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DBH Gene Dopamine beta-hydroxylase (DBH) deficiency NGS Genetic DNA Test gene DBH

Detail Description

DBH Gene Dopamine Beta-Hydroxylase (DBH) Deficiency NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Dopamine beta-hydroxylase (DBH) is an enzyme that converts dopamine into norepinephrine, which is important for regulating blood pressure and other physiological processes. DBH deficiency is a rare genetic disorder that affects the production of this enzyme, leading to low levels of norepinephrine and a range of symptoms.

Symptoms of DBH Deficiency

The symptoms of DBH deficiency can vary widely depending on the severity of the condition. Some common symptoms include:

• Low blood pressure
• Dizziness upon standing up
• Fainting or lightheadedness
• Increased heart rate
• Sweating
• Difficulty regulating body temperature
• Depression or anxiety
• Tremors or shaking

DBH deficiency can also lead to more serious complications, such as heart failure or sudden death in some cases.

Diagnosis of DBH Deficiency

DBH deficiency is typically diagnosed through genetic testing. A Next-Generation Sequencing (NGS) genetic DNA test can identify mutations in the DBH gene that cause the condition. This test can also be used to identify carriers of the gene mutation.

Other diagnostic tests may be used to confirm a diagnosis of DBH deficiency, such as blood tests to measure levels of norepinephrine or other hormones.

Cost of DBH Deficiency NGS Genetic DNA Test

The cost of a DBH deficiency NGS genetic DNA test in India is typically around INR 20,000. This cost may vary depending on the specific laboratory or testing facility used.

Conclusion

DBH deficiency is a rare genetic disorder that can cause a range of symptoms related to low levels of norepinephrine. Diagnosis of the condition typically involves genetic testing, such as an NGS genetic DNA test, which can identify mutations in the DBH gene. The cost of this test in India is around INR 20,000.

If you are experiencing symptoms of DBH deficiency or are concerned about your risk for the condition, talk to your healthcare provider about genetic testing options.