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DNA Labs India

SFTPB Gene Surfactant metabolism dysfunction type 1 NGS Genetic Test

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SFTPB Gene Surfactant metabolism dysfunction type 1 NGS Genetic Test

Short Name: SFTPB Gene Test

SFTPB Gene Surfactant metabolism dysfunction type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses 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.

NGS Genetic TestUnisexInfants and Children🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Surfactant Metabolism Dysfunction Type 1 by detecting mutations in the SFTPB gene using NGS technology, enabling early management and genetic counseling.

Test Code
2249
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
NGS
Step 1

Sample Collection

A certified phlebotomist visits your home or you visit our nearest center. The process takes under 5 minutes.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

About This Test

Who Should Get This Test

To diagnose Surfactant Metabolism Dysfunction Type 1 by detecting mutations in the SFTPB gene using NGS technology, enabling early management and genetic counseling.

How to Prepare

  • Blood sample: Collect via venipuncture in an EDTA tube.
  • Extracted DNA: Ensure proper extraction and storage.
  • One drop blood on FTA Card: Follow card instructions for sample application.
  • Maintain sample at ambient room temperature during transport.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of mutations in the SFTPB gene associated with Surfactant Metabolism Dysfunction Type 1.
📊

Positive for pathogenic variants

Confirms diagnosis of Surfactant Metabolism Dysfunction Type 1; genetic counseling and management recommended.

📊

Negative for pathogenic variants

No mutations detected; consider other causes if symptoms persist, and clinical correlation is advised.

📊

Variant of uncertain significance

Further testing or family studies may be needed; consult with a genetic specialist.

⚠️ When to Consult a Doctor:

Consult a healthcare provider or genetic specialist for test interpretation, management options, and genetic counseling after receiving results.

Risks & Considerations

  • Minor bruising or discomfort at blood draw site.
  • Rare risk of infection or fainting during sample collection.
  • Potential psychological impact of genetic results.

Frequently Asked Questions

What is the SFTPB Gene Surfactant Metabolism Dysfunction Type 1 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing (NGS) to detect mutations in the SFTPB gene, which causes a rare lung disorder due to surfactant protein B deficiency.
Who should consider taking this test?
Infants or children with respiratory distress, recurrent lung infections, or a family history of Surfactant Metabolism Dysfunction Type 1 should consider this test for accurate diagnosis.
How is the test performed?
The test requires a blood sample, extracted DNA, or a blood drop on an FTA card, which is analyzed in the laboratory using NGS technology to identify gene mutations.
What is the cost of the SFTPB Gene Test?
The cost at DNA Labs India is INR 20,000, which includes free home sample collection across India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What are the symptoms of Surfactant Metabolism Dysfunction Type 1?
Symptoms include difficulty breathing, rapid breathing, recurrent lung infections, and respiratory failure, typically appearing in infancy or early childhood.
Is there a cure for Surfactant Metabolism Dysfunction Type 1?
There is no cure, but early diagnosis and management with therapies like oxygen support, ventilation, and medications can improve outcomes.
What is the genetic basis of this disorder?
It is caused by mutations in the SFTPB gene, inherited in an autosomal recessive pattern, meaning both parents must carry a mutation for a child to be affected.
How accurate is the NGS genetic test?
The NGS technology provides high accuracy and reliability in detecting mutations in the SFTPB gene, making it a trusted diagnostic tool.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal diagnosis if there is a known family history, but genetic counseling is recommended to discuss implications.
What should I do after receiving the test results?
Consult with a healthcare provider or genetic counselor to interpret results, discuss management options, and understand family risks.
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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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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