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SFTPD Gene Surfactant metabolism dysfunction NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SFTPD Gene Surfactant metabolism dysfunction NGS Genetic Test

Short Name: SFTPD Gene Test

Also known as: SFTPD Mutation Test, Surfactant Protein D Gene Test

SFTPD Gene Surfactant metabolism dysfunction 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.

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

To detect genetic mutations in the SFTPD gene associated with surfactant metabolism dysfunction, aiding in diagnosis, treatment planning, and genetic counseling for affected individuals and families.

Test Code
2248
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)
Step 1

Sample Collection

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture or one drop on FTA card, performed by trained phlebotomists.

Step 3

Report Delivery

Sample is processed and analyzed using NGS technology in a certified laboratory.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection via blood draw or FTA card, analyzed using NGS technology.
3
After the Test:Results are available in 3 to 4 weeks; follow up with a specialist for interpretation.

About This Test

Who Should Get This Test

To detect genetic mutations in the SFTPD gene associated with surfactant metabolism dysfunction, aiding in diagnosis, treatment planning, and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure patient is calm and hydrated
  • Use sterile equipment for blood draw
  • Label sample correctly with patient details
  • For FTA card, apply one drop of blood and let it dry
  • Store samples at ambient room temperature

Doctor's Notes

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

"Genetic testing for SFTPD mutations is essential for confirming surfactant metabolism dysfunction, guiding treatment, and informing family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the SFTPD gene. Pathogenic variants confirm surfactant metabolism dysfunction, while benign variants may not cause disease.
Positive for pathogenic mutation: Indicates genetic basis for dysfunction
Negative for mutations: SFTPD gene may not be involved; consider other tests
Variant of uncertain significance: Requires further family studies or functional analysis
Report includes detailed mutation description and clinical correlation
⚠️ When to Consult a Doctor:

Consult a doctor if you experience persistent respiratory symptoms, have a family history of lung disorders, or receive positive genetic test results for guidance on management and treatment.

Limitations

  • ⚠May not detect all possible SFTPD gene variants
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not replace clinical diagnosis; correlate with symptoms
  • ⚠Limited to known mutations in databases

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential psychological impact from genetic results
  • ●Privacy concerns regarding genetic data

Interfering Factors

  • ●Poor sample quality such as hemolyzed blood
  • ●Insufficient DNA quantity
  • ●Recent blood transfusion may affect results
  • ●Contamination during sample collection

Frequently Asked Questions

What is SFTPD Gene Surfactant Metabolism Dysfunction?
It is a rare genetic disorder caused by mutations in the SFTPD gene, leading to impaired surfactant production in the lungs and respiratory problems.
What are the common symptoms of this condition?
Symptoms include difficulty breathing, chest pain, coughing, wheezing, fever, and fatigue, varying in severity among individuals.
How is the NGS Genetic Test performed?
The test analyzes the entire SFTPD gene using Next Generation Sequencing technology from a blood sample or extracted DNA.
What is the cost of the test?
The cost is INR 20000, including sample collection and analysis, with no hidden charges.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India for online bookings.
What samples are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and understand the implications of testing.
What do the test results indicate?
Results show if there are mutations in the SFTPD gene; pathogenic variants confirm the disorder, while negative results may suggest other causes.
Are there any risks associated with genetic testing?
Risks are minimal but may include psychological stress from results or privacy concerns; discuss with a counselor.
Can this test be used for prenatal diagnosis?
It may be used in some cases for prenatal testing, but genetic counseling is essential to discuss options and implications.
How accurate is the SFTPD Gene NGS Test?
The test is highly accurate for detecting mutations in the SFTPD gene, but accuracy depends on sample quality and laboratory standards.
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

Your Data Privacy

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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