HMBS Gene Porphyria Acute Intermittent Genetic Test
Welcome to DNA Labs UAE, your trusted genetic testing laboratory. Today, we will be discussing the HMBS Gene Porphyria Acute Intermittent Genetic Test and all the important details you need to know.
Test Details
The HMBS gene is responsible for producing the enzyme called porphobilinogen deaminase (PBGD), which is involved in the heme biosynthesis pathway. Mutations in the HMBS gene can lead to a condition called acute intermittent porphyria (AIP). AIP is an autosomal dominant disorder characterized by recurrent episodes of acute neurovisceral symptoms.
These symptoms can include severe abdominal pain, nausea, vomiting, constipation, muscle weakness, and neurological manifestations such as seizures, hallucinations, and neuropathy.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of a gene or multiple genes simultaneously. In the case of HMBS gene testing, NGS can be used to identify any mutations or variants in the HMBS gene that may be associated with AIP.
NGS testing for HMBS gene mutations can help diagnose AIP and identify individuals who may be at risk of developing the condition. It can also be used for carrier testing in individuals with a family history of AIP.
It is important to note that genetic testing for AIP should be performed by a qualified healthcare professional who specializes in genetic testing and counseling. They can provide appropriate guidance and interpretation of the test results.
Test Name: HMBS Gene Porphyria Acute Intermittent Genetic Test
Components:
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Metabolic Disorders
- Doctor: General Physician
- Test Department: Genetics
- Pre Test 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.
At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services. If you suspect that you or your family members may be at risk of AIP, it is important to consult with a healthcare professional and consider genetic testing.
Don’t wait, take control of your health today with the HMBS Gene Porphyria Acute Intermittent Genetic Test at DNA Labs UAE!
| Test Name | HMBS Gene Porphyria acute intermittent Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
The HMBS gene is responsible for producing the enzyme called porphobilinogen deaminase (PBGD), which is involved in the heme biosynthesis pathway. Mutations in the HMBS gene can lead to a condition called acute intermittent porphyria (AIP). AIP is an autosomal dominant disorder characterized by recurrent episodes of acute neurovisceral symptoms. These symptoms can include severe abdominal pain, nausea, vomiting, constipation, muscle weakness, and neurological manifestations such as seizures, hallucinations, and neuropathy. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of a gene or multiple genes simultaneously. In the case of HMBS gene testing, NGS can be used to identify any mutations or variants in the HMBS gene that may be associated with AIP. NGS testing for HMBS gene mutations can help diagnose AIP and identify individuals who may be at risk of developing the condition. It can also be used for carrier testing in individuals with a family history of AIP. It is important to note that genetic testing for AIP should be performed by a qualified healthcare professional who specializes in genetic testing and counseling. They can provide appropriate guidance and interpretation of the test results. |
