CSF2RA Gene Surfactant Metabolism Dysfunction Type 4 Genetic Test
Test Name: CSF2RA Gene Surfactant Metabolism Dysfunction Type 4 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 3200.0 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 CSF2RA Gene Surfactant Metabolism Dysfunction Type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Surfactant Metabolism Dysfunction Type 4.
Test Details
The CSF2RA gene is responsible for encoding a protein called colony-stimulating factor 2 receptor alpha (CSF2RA). This protein is involved in the regulation of surfactant metabolism in the lungs. Surfactant is a substance that coats the inner surface of the lungs and helps to reduce surface tension, allowing for proper lung function.
Mutations in the CSF2RA gene can lead to a condition known as surfactant metabolism dysfunction type 4 (SMDP4). SMDP4 is a rare genetic disorder characterized by abnormal surfactant production and function. This can result in respiratory distress and lung disease, typically presenting in infancy or early childhood. Symptoms may include difficulty breathing, rapid breathing, cough, and recurrent lung infections.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously for the presence of mutations or variants. In the case of SMDP4, NGS genetic testing can identify mutations in the CSF2RA gene, confirming a diagnosis of the condition.
Genetic testing can be useful in providing a definitive diagnosis, guiding treatment decisions, and informing genetic counseling for affected individuals and their families. However, it is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals with expertise in genetics.
| Test Name | CSF2RA Gene Surfactant metabolism dysfunction type 4 Genetic Test |
|---|---|
| Components | |
| Price | 3200.0 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 CSF2RA Gene Surfactant metabolism dysfunction type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Surfactant metabolism dysfunction type 4 |
| Test Details |
The CSF2RA gene is responsible for encoding a protein called colony-stimulating factor 2 receptor alpha (CSF2RA). This protein is involved in the regulation of surfactant metabolism in the lungs. Surfactant is a substance that coats the inner surface of the lungs and helps to reduce surface tension, allowing for proper lung function. Mutations in the CSF2RA gene can lead to a condition known as surfactant metabolism dysfunction type 4 (SMDP4). SMDP4 is a rare genetic disorder characterized by abnormal surfactant production and function. This can result in respiratory distress and lung disease, typically presenting in infancy or early childhood. Symptoms may include difficulty breathing, rapid breathing, cough, and recurrent lung infections. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously for the presence of mutations or variants. In the case of SMDP4, NGS genetic testing can identify mutations in the CSF2RA gene, confirming a diagnosis of the condition. Genetic testing can be useful in providing a definitive diagnosis, guiding treatment decisions, and informing genetic counseling for affected individuals and their families. However, it is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals with expertise in genetics. |
