PPM1K Gene Maple Syrup Urine Disease Mild Variant Genetic Test
Test Details
The PPM1K gene is associated with maple syrup urine disease (MSUD), a rare metabolic disorder. This genetic condition prevents the proper breakdown of certain amino acids, leading to their accumulation in the blood and urine. The mild variant of maple syrup urine disease is caused by mutations in the PPM1K gene. This variant typically presents with milder symptoms and a later onset compared to the classic form of the disease.
Test Components and Price
The cost of the PPM1K Gene Maple Syrup Urine Disease Mild Variant Genetic Test is AED 4400.0. The test can be performed using blood or extracted DNA, or just one drop of blood on an FTA card.
Report Delivery
The test results will be delivered within 3 to 4 weeks.
Method
The PPM1K Gene Maple Syrup Urine Disease Mild Variant Genetic Test utilizes NGS (Next-Generation Sequencing) technology to analyze the DNA sequence of the PPM1K gene.
Test Type
This test falls under the category of metabolic disorders.
Referring Doctor and Test Department
The referring doctor for this test is a general physician. The test is conducted in the Genetics department.
Pre Test Information
Prior to the test, it is important to provide the clinical history of the patient who is undergoing the PPM1K Gene Maple Syrup Urine Disease Mild Variant Genetic Test. Additionally, a genetic counseling session is conducted to draw a pedigree chart of family members affected by the mild variant of maple syrup urine disease.
Why is the PPM1K Gene Maple Syrup Urine Disease Mild Variant Genetic Test important?
This genetic test is crucial for the diagnosis of maple syrup urine disease and for identifying the specific genetic cause of the condition. It is particularly useful for individuals with symptoms suggestive of the disease or those with a family history of the condition. Additionally, the test can be used for carrier screening in individuals planning to have children, as maple syrup urine disease is an autosomal recessive disorder.
By identifying the specific genetic mutation in the PPM1K gene, NGS testing provides valuable information for healthcare professionals to make an accurate diagnosis, provide appropriate treatment, and offer genetic counseling to affected individuals and their families.
| Test Name | PPM1K Gene Maple syrup urine disease mild variant 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 PPM1K Gene Maple syrup urine disease, mild variant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Maple syrup urine disease, mild variant |
| Test Details |
PPM1K gene is associated with maple syrup urine disease (MSUD), which is a rare metabolic disorder characterized by the inability to break down certain amino acids properly. This genetic condition leads to the accumulation of amino acids, including leucine, isoleucine, and valine, in the blood and urine. The mild variant of maple syrup urine disease is caused by mutations in the PPM1K gene. This variant typically results in a milder form of the disease, with less severe symptoms and a later onset compared to the classic form. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of specific genes, including PPM1K, to identify any mutations or variations that may be present. This type of testing can help diagnose maple syrup urine disease and determine the specific genetic cause of the condition. Genetic testing for the PPM1K gene can be useful for individuals with symptoms suggestive of maple syrup urine disease or those with a family history of the condition. It can also be used for carrier screening in individuals planning to have children, as maple syrup urine disease is an autosomal recessive disorder. By identifying the specific genetic mutation in the PPM1K gene, NGS testing can provide valuable information for healthcare professionals to make an accurate diagnosis, provide appropriate treatment, and offer genetic counseling to affected individuals and their families. |
