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SRP72 Gene Bone marrow failure syndrome type 1 NGS Genetic Test

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SRP72 Gene Bone marrow failure syndrome type 1 NGS Genetic Test

Short Name: SRP72 Gene NGS Test

SRP72 Gene Bone marrow failure syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

🩺 Medically Reviewed By

Overview

The purpose of the SRP72 Gene NGS Genetic Test is to diagnose bone marrow failure syndrome type 1 by identifying mutations in the SRP72 gene. This test helps in confirming the genetic cause of the disorder, guiding treatment decisions, enabling family screening, and providing accurate information for patient management.

Test Code
2669
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 Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with bone marrow failure syndrome are recommended before sample collection.

Method: Blood draw or FTA card collection

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology 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

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before the test to assess risk and draw a pedigree chart.
2
During the Test:The test involves a simple blood draw or DNA sample collection, which is minimally invasive.
3
After the Test:Results will be available in 3 to 4 weeks. Genetic counseling is advised to interpret the results and discuss next steps.

About This Test

Who Should Get This Test

The purpose of the SRP72 Gene NGS Genetic Test is to diagnose bone marrow failure syndrome type 1 by identifying mutations in the SRP72 gene. This test helps in confirming the genetic cause of the disorder, guiding treatment decisions, enabling family screening, and providing accurate information for patient management.

How to Prepare

  • Provide a blood sample or extracted DNA.
  • For FTA card, use one drop of blood.

Doctor's Notes

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

"This genetic test is essential for diagnosing bone marrow failure syndromes early, allowing for timely intervention and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or FTA card collection

Understanding Your Results

Results of the SRP72 Gene NGS Genetic Test indicate the presence or absence of mutations in the SRP72 gene associated with bone marrow failure syndrome type 1.
Positive: Pathogenic mutation detected in SRP72 gene, confirming diagnosis of bone marrow failure syndrome type 1.
Negative: No pathogenic mutations detected, but clinical correlation is advised as symptoms may be due to other causes.
Variant of uncertain significance: Further testing, family studies, and genetic counseling are recommended for clarification.
⚠️ When to Consult a Doctor:

If you experience symptoms such as fatigue, shortness of breath, pale skin, easy bruising or bleeding, frequent infections, or abnormal growth, consult a healthcare provider for evaluation and possible genetic testing.

Risks & Considerations

  • Minimal physical risk from blood draw, such as bruising or infection.
  • Potential psychological impact of genetic results, including anxiety or stress.
  • Risk of inconclusive results requiring further testing or family studies.

Frequently Asked Questions

What is the SRP72 Gene Bone Marrow Failure Syndrome Type 1 NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing (NGS) to detect mutations in the SRP72 gene, which causes bone marrow failure syndrome type 1, a rare disorder affecting blood cell production.
Why is this test recommended?
This test is recommended for individuals with symptoms like fatigue, shortness of breath, pale skin, easy bruising, frequent infections, or abnormal growth, to diagnose the underlying genetic condition and guide treatment.
How is the test performed?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card. The sample is analyzed using NGS technology to sequence the SRP72 gene.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India for online bookings.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India, including Mumbai, Delhi, Bangalore, and many others.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection, and can be accessed via online portal, email, or WhatsApp.
What do the test results indicate?
Results show whether pathogenic mutations in the SRP72 gene are detected. A positive result confirms bone marrow failure syndrome type 1, while a negative result suggests no mutations, but clinical correlation is needed.
Are there any risks or side effects?
The test involves a simple blood draw with minimal risks like bruising. There may be psychological implications of genetic results, so genetic counseling is recommended.
Can children undergo this test?
Yes, the test can be performed on individuals of all ages, including children, if indicated by symptoms or family history of bone marrow failure syndrome.
What preparation is needed before the test?
A clinical history review and genetic counseling session are recommended before testing to draw a pedigree chart of family members and assess risk.
How accurate is the NGS Genetic Test?
NGS technology is highly accurate for detecting genetic mutations in the SRP72 gene, but results should be interpreted in conjunction with clinical findings and genetic counseling.
What should I do if the test is positive?
If positive, consult a healthcare provider or genetic counselor for further management, treatment options, family screening, and to understand the implications for health and family planning.
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 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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