PLEC Gene Epidermolysis bullosa simplex Ogna type Genetic Test
Genetic testing plays a vital role in the diagnosis and treatment of various genetic disorders. One such disorder is Epidermolysis bullosa simplex, specifically Ogna type, which is caused by mutations in the PLEC gene. In order to confirm a diagnosis of Ogna type Epidermolysis bullosa simplex, a PLEC gene genetic test is conducted.
Test Details
The PLEC gene genetic test is a type of NGS (Next-Generation Sequencing) genetic testing. NGS genetic testing allows for the analysis of multiple genes simultaneously, providing a comprehensive analysis of an individual’s DNA. In the context of Epidermolysis bullosa simplex, NGS genetic testing can identify mutations in the PLEC gene, confirming a diagnosis of Ogna type.
Test Components and Price
- Test Name: PLEC Gene Epidermolysis bullosa simplex Ogna type 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: Osteology Dermatology Immunology Disorders
- Doctor: Dermatologist
- Test Department: Genetics
Pre Test Information
Prior to undergoing the PLEC Gene Epidermolysis bullosa simplex Ogna type Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by the disorder.
Signs and Symptoms of Epidermolysis bullosa simplex Ogna type
Epidermolysis bullosa simplex Ogna type is a rare genetic disorder characterized by blistering of the skin and mucous membranes in response to minor trauma or friction.
Importance of Genetic Testing
NGS genetic testing is a valuable tool for diagnosing genetic disorders like Epidermolysis bullosa simplex Ogna type. By identifying mutations in the PLEC gene, healthcare professionals can provide an accurate diagnosis, determine appropriate treatment options, and offer genetic counseling to affected individuals and their families.
| Test Name | PLEC Gene Epidermolysis bullosa simplex Ogna type 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 | Osteology Dermatology Immunology Disorders |
| Doctor | Dermatologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for PLEC Gene Epidermolysis bullosa simplex, Ogna type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PLEC Gene Epidermolysis bullosa simplex, Ogna type NGS Genetic DNA Test gene PLEC |
| Test Details |
The PLEC gene is associated with a subtype of Epidermolysis bullosa simplex called Ogna type. Epidermolysis bullosa simplex is a rare genetic disorder characterized by blistering of the skin and mucous membranes in response to minor trauma or friction. Ogna type is specifically caused by mutations in the PLEC gene. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that allows for the analysis of multiple genes simultaneously. In the context of Epidermolysis bullosa simplex, NGS genetic testing can be used to identify mutations in the PLEC gene, which can confirm a diagnosis of Ogna type. NGS genetic testing involves sequencing the DNA of an individual to identify any genetic variations or mutations that may be present. This type of testing can provide a comprehensive analysis of multiple genes, making it a valuable tool for diagnosing genetic disorders like Epidermolysis bullosa simplex. By identifying mutations in the PLEC gene through NGS genetic testing, healthcare professionals can provide an accurate diagnosis of Ogna type Epidermolysis bullosa simplex. This information can be crucial for determining appropriate treatment options and providing genetic counseling to affected individuals and their families. |
