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CSF2RB Gene Surfactant metabolism dysfunction type 5 NGS Genetic Test

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CSF2RB Gene Surfactant metabolism dysfunction type 5 NGS Genetic Test

Short Name: CSF2RB Gene Surfactant Test

Also known as: Surfactant metabolism dysfunction type 5

CSF2RB Gene Surfactant metabolism dysfunction type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-generation sequencing (NGS), DNA sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the CSF2RB gene to diagnose surfactant metabolism dysfunction type 5, aid in treatment planning, and facilitate genetic counseling for affected families.

Test Code
2255
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-generation sequencing (NGS), DNA sequencing
Step 1

Sample Collection

Genetic counseling session recommended. Provide clinical history and family pedigree.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture under sterile conditions.

Step 3

Report Delivery

Sample processed in accredited laboratory. Report delivered in 3-4 weeks.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to understand the test and implications.
2
During the Test:Simple blood draw procedure taking a few minutes.
3
After the Test:Wait for report and follow up with healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the CSF2RB gene to diagnose surfactant metabolism dysfunction type 5, aid in treatment planning, and facilitate genetic counseling for affected families.

How to Prepare

  • Use aseptic technique for blood collection
  • Label sample correctly with patient details
  • Store at room temperature if using FTA card
  • Transport to lab within specified stability period

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This NGS genetic test is vital for early diagnosis and management of CSF2RB-related surfactant dysfunction, which can significantly improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Room temperature24 hours for blood
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect sample type
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CSF2RB gene.
📊

No pathogenic variants detected

Low likelihood of CSF2RB-related disorder, but clinical correlation needed.

📊

Pathogenic variant detected

Confirms diagnosis of surfactant metabolism dysfunction type 5. Genetic counseling recommended.

📊

Variant of uncertain significance

Further testing or family studies may be required.

⚠️ When to Consult a Doctor:

If symptoms persist or worsen, or for family planning advice based on genetic results.

Limitations

  • ⚠May not detect all types of genetic variants
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection at puncture site

Interfering Factors

  • ●Poor sample quality
  • ●Hemolyzed blood sample
  • ●Insufficient DNA quantity

Frequently Asked Questions

What is CSF2RB Gene Surfactant Metabolism Dysfunction Type 5?
It is a rare genetic disorder caused by mutations in the CSF2RB gene, leading to impaired surfactant metabolism in the lungs and respiratory symptoms.
Who should consider this genetic test?
Individuals with symptoms like shortness of breath, recurrent lung infections, or a family history of the disorder should consider testing.
What are the symptoms of this disorder?
Common symptoms include shortness of breath, rapid breathing, coughing, wheezing, and recurrent lung infections.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze the CSF2RB gene from a blood sample or extracted DNA.
What is the cost of the test?
The test costs INR 20,000, including home sample collection across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
What does a positive result mean?
A positive result confirms a pathogenic mutation in the CSF2RB gene, indicating surfactant metabolism dysfunction type 5.
Is genetic counseling included?
Yes, genetic counseling is provided to help interpret results and guide medical decisions.
Can this test be used for carrier testing?
Yes, it can identify carriers of CSF2RB mutations for family planning purposes.
What are the limitations of the test?
The test may not detect all genetic variants and requires specialist interpretation. It does not rule out other conditions.
How can I book the test?
You can book online through DNA Labs India's website or contact their customer service for assistance.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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.

LIMS Integration

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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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