PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy Genetic Test
At DNA Labs UAE, we offer the PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy Genetic Test. This test is designed to detect mutations in the PLEC gene, which is associated with a rare genetic disorder called Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD).
Test Components and Price
The cost of the PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy Genetic Test is AED 4400.0. The test can be performed using blood or extracted DNA, or even just one drop of blood on an FTA card.
Report Delivery and Method
The report for the PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy Genetic Test will be delivered within 3 to 4 weeks. The test utilizes NGS (Next Generation Sequencing) technology, which allows for the simultaneous analysis of multiple genes.
Test Type and Doctor
The PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy Genetic Test falls under the category of Neurological Disorders. The test is conducted by a Neurologist in our Test Department of Genetics.
Pre Test Information
Prior to undergoing the PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy Genetic Test, it is recommended 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 EBS-MD.
Test Details
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a rare genetic disorder characterized by blistering skin and muscle weakness. The PLEC gene is associated with this disorder. NGS genetic testing is a powerful tool used to detect mutations in the PLEC gene. This type of testing allows for the analysis of multiple genes simultaneously, increasing the chances of identifying disease-causing mutations.
Sample Types and Results
NGS genetic testing for EBS-MD can be performed using various sample types, including blood, saliva, and tissue samples. The results of this testing can confirm a diagnosis of EBS-MD, aid in treatment decisions, and provide information about the risk of passing the disorder on to future generations.
| Test Name | PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy |
| Test Details | The PLEC gene is associated with a rare genetic disorder called Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). This disorder is characterized by the presence of blistering skin and muscle weakness. NGS (Next Generation Sequencing) genetic testing is a powerful tool that can be used to detect mutations in the PLEC gene. This type of testing allows for the simultaneous analysis of multiple genes, which can increase the likelihood of identifying disease-causing mutations. NGS genetic testing for EBS-MD can be performed using a variety of sample types, including blood, saliva, and tissue samples. The results of this testing can be used to confirm a diagnosis of EBS-MD, as well as to inform treatment decisions and provide information about the risk of passing the disorder on to future generations. |
