CSF2RA Gene Surfactant metabolism dysfunction type 4 NGS Genetic Test
Short Name: CSF2RA NGS Genetic Test
Also known as: Surfactant metabolism disorder type 4 genetic test, CSF2RA gene mutation test, Pulmonary surfactant metabolism dysfunction type 4 NGS
CSF2RA Gene Surfactant metabolism dysfunction type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To detect pathogenic mutations in the CSF2RA gene using Next-Generation Sequencing for the diagnosis of surfactant metabolism dysfunction type 4, a rare genetic disorder affecting lung surfactant metabolism.
- Test Code
- 2251
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling session to discuss family history and draw a pedigree chart. Provide clinical history of the patient, including symptoms and prior medical records.
Method: Venipuncture or FTA card
Laboratory Analysis
Standard venipuncture for blood draw or collection of a drop of blood on an FTA card. The process is quick and minimally invasive.
Report Delivery
Sample is labeled, stored at ambient temperature, and sent to the laboratory for NGS analysis. Results are reviewed by geneticists.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic mutations in the CSF2RA gene using Next-Generation Sequencing for the diagnosis of surfactant metabolism dysfunction type 4, a rare genetic disorder affecting lung surfactant metabolism.
How to Prepare
- Ensure proper identification and labeling of the sample
- Use sterile collection tubes or FTA cards as specified
- Avoid hemolysis during blood draw
- Transport sample at room temperature unless otherwise indicated
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test is vital for early diagnosis in infants with unexplained respiratory distress, helping guide clinical management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Samples with insufficient volume
- Improperly labeled or unlabeled specimens
- Contaminated or degraded DNA
Understanding Your Results
Consult a geneticist or pulmonologist if symptoms persist, for genetic counseling, or to discuss test results and management options for surfactant metabolism dysfunction type 4.
Limitations
- ⚠May not detect all genetic variants, including large deletions or duplications
- ⚠Results require interpretation by a genetic specialist
- ⚠False positives or negatives are possible, though rare with NGS
- ⚠Does not assess environmental factors influencing disease expression
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection
- ●Potential for genetic information disclosure with psychological implications
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Hemolyzed blood specimens
- ●Insufficient sample volume
- ●Technical errors during library preparation or sequencing
Frequently Asked Questions
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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