CPT1B Gene Carnitine palmitoyltransferase 1B deficiency Genetic Test
Are you or a family member experiencing symptoms related to Carnitine palmitoyltransferase 1B deficiency? DNA Labs UAE offers a comprehensive genetic test to diagnose this rare genetic disorder.
Test Details
Carnitine palmitoyltransferase 1B (CPT1B) deficiency is a rare genetic disorder that affects the body’s ability to break down fats for energy. It is caused by mutations in the CPT1B gene, which is responsible for producing an enzyme called carnitine palmitoyltransferase 1B.
Our CPT1B Gene Carnitine palmitoyltransferase 1B deficiency Genetic Test utilizes NGS (Next-Generation Sequencing) technology to analyze multiple genes simultaneously. This advanced sequencing technique allows us to identify mutations in the CPT1B gene, providing valuable insights for diagnosis.
To perform this test, we require a DNA sample from the individual. This can be obtained through a blood sample or a cheek swab. The DNA is then sequenced using NGS technology, specifically analyzing the entire coding region of the CPT1B gene.
Our test results can help diagnose CPT1B deficiency and determine the specific mutations present in the gene. This is especially useful in cases where the symptoms may not clearly indicate the disorder. Additionally, our NGS genetic testing can be utilized for carrier testing in individuals with a family history of CPT1B deficiency, as well as for prenatal testing in families at risk of having a child with the disorder.
It is important to note that genetic testing should always be done under the guidance of a healthcare professional or genetic counselor. They can provide appropriate counseling and interpretation of the results, ensuring a comprehensive understanding of the implications.
Test Components and Pricing
- Test Name: CPT1B Gene Carnitine palmitoyltransferase 1B deficiency Genetic Test
- 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
Prior to the CPT1B Gene Carnitine palmitoyltransferase 1B deficiency NGS Genetic DNA Test, it is essential to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected with Carnitine palmitoyltransferase 1B deficiency. This information will aid in the accurate interpretation of the test results.
Don’t delay in getting the answers you need. Contact DNA Labs UAE today to schedule your CPT1B Gene Carnitine palmitoyltransferase 1B deficiency Genetic Test.
| Test Name | CPT1B Gene Carnitine palmitoyltransferase 1B deficiency 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 CPT1B Gene Carnitine palmitoyltransferase 1B deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Carnitine palmitoyltransferase 1B deficiency |
| Test Details |
Carnitine palmitoyltransferase 1B (CPT1B) deficiency is a rare genetic disorder that affects the body’s ability to break down fats for energy. It is caused by mutations in the CPT1B gene, which is responsible for producing an enzyme called carnitine palmitoyltransferase 1B. NGS (Next-Generation Sequencing) Genetic Test is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of CPT1B deficiency, an NGS genetic test can be used to identify mutations in the CPT1B gene. This test involves obtaining a DNA sample from the individual, usually through a blood sample or a cheek swab. The DNA is then sequenced using NGS technology to analyze the entire coding region of the CPT1B gene. The results of the test can help diagnose CPT1B deficiency and determine the specific mutations present in the gene. NGS genetic testing for CPT1B deficiency can be helpful in confirming a diagnosis, especially in cases where the symptoms are not clearly indicative of the disorder. It can also be used for carrier testing in individuals with a family history of CPT1B deficiency, as well as for prenatal testing in families at risk of having a child with the disorder. It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor, who can provide appropriate counseling and interpretation of the results. |