SFTPC Gene Surfactant Metabolism Dysfunction Type 2 Genetic Test
Introduction
The SFTPC gene (surfactant protein C) is associated with surfactant metabolism dysfunction type 2 (SMDP2), a rare genetic disorder that affects the lungs. This disorder is characterized by the accumulation of abnormal surfactant protein in the alveoli, leading to respiratory distress and lung damage.
Test Details
The SFTPC Gene Surfactant Metabolism Dysfunction Type 2 Genetic Test is a comprehensive assessment of the patient’s genetic profile. This test uses NGS (Next-Generation Sequencing) technology to analyze the SFTPC gene for mutations or variations that may be responsible for SMDP2.
Components
- Test Name: SFTPC Gene Surfactant Metabolism Dysfunction Type 2 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 test, it is important to provide the clinical history of the patient who is going for the SFTPC Gene Surfactant Metabolism Dysfunction Type 2 NGS Genetic DNA Test. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with SMDP2.
Interpretation and Importance
NGS genetic testing involves sequencing the patient’s DNA and comparing it to a reference genome to identify any genetic variations or mutations. In the case of SMDP2, specific variants in the SFTPC gene can be identified through this testing method. The results of the test can help confirm a diagnosis of SMDP2, guide treatment decisions, and provide valuable information for genetic counseling.
It is crucial to note that NGS testing should be performed by a qualified genetic testing laboratory and interpreted by a healthcare professional with expertise in genetics.
For individuals who suspect they may have SMDP2 or have a family history of the disorder, the SFTPC Gene Surfactant Metabolism Dysfunction Type 2 Genetic Test is an essential tool for accurate diagnosis and personalized treatment.
Test Name | SFTPC Gene Surfactant metabolism dysfunction type 2 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 SFTPC Gene Surfactant metabolism dysfunction type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Surfactant metabolism dysfunction type 2 |
Test Details |
SFTPC gene (surfactant protein C) is associated with surfactant metabolism dysfunction type 2 (SMDP2), which is a rare genetic disorder affecting the lungs. SMDP2 is characterized by the accumulation of abnormal surfactant protein in the alveoli, leading to respiratory distress and lung damage. NGS (Next-Generation Sequencing) genetic testing can be used to analyze the SFTPC gene for mutations or variations that may be responsible for SMDP2. This type of testing allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of the patient’s genetic profile. NGS genetic testing involves sequencing the DNA of the patient and comparing it to a reference genome to identify any genetic variations or mutations. In the case of SMDP2, specific variants in the SFTPC gene can be identified through this testing method. The results of NGS genetic testing can help in confirming a diagnosis of SMDP2, guiding treatment decisions, and providing valuable information for genetic counseling. It is important to note that NGS testing should be performed by a qualified genetic testing laboratory and interpreted by a healthcare professional with expertise in genetics. |