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DNA Labs India

Targeted Sequencing- Below 50 Kb Test

DNA Labs India | ISO 9001:2015 Certified

Targeted Sequencing- Below 50 Kb Test

Short Name: Targeted Sequencing <50 Kb

Also known as: Targeted Gene Panel Sequencing, Region-Specific Sequencing

Targeted Sequencing- Below 50 Kb Test test available at DNA Labs India for ₹960,000. Uses Targeted Sequencing on Extracted DNA samples. Results in 4-6 weeks. Free home collection in 300+ cities across India.

Targeted Sequencing🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of targeted sequencing below 50 Kb is to diagnose genetic disorders by sequencing specific genomic regions associated with known conditions, providing accurate identification of mutations for clinical management and family planning.

Test Code
3408
Price
₹960,000
Sample Type
Extracted DNA
Result Time
4-6 weeks
Fasting Required
No
Method
Targeted Sequencing
Step 1

Sample Collection

No special preparation required. Consult with a healthcare provider for guidance.

Method: DNA extraction from blood or saliva sample

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist or a saliva sample collected using a kit.

Step 3

Report Delivery

Apply pressure to the puncture site if blood is drawn. Store sample as instructed.

Timeline: 4-6 weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider to determine if testing is appropriate based on symptoms and family history.
2
During the Test:Sample is processed in the lab using sequencing technology to analyze targeted genomic regions.
3
After the Test:Wait for results (4-6 weeks) and follow up with a healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of targeted sequencing below 50 Kb is to diagnose genetic disorders by sequencing specific genomic regions associated with known conditions, providing accurate identification of mutations for clinical management and family planning.

How to Prepare

  • Ensure proper patient identification
  • Follow aseptic techniques
  • Label samples correctly
  • Transport to lab within stability period

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Targeted sequencing is a valuable tool for diagnosing genetic disorders with precision and cost-effectiveness, aiding in early intervention and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeExtracted DNA
Sample VolumeAs required
ContainerSterile tube
Collection MethodDNA extraction from blood or saliva sample

Sample Stability

DNA samples stable for up to 7 days at room temperature
Long-term storage at -20°C recommended
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated sample
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of genetic variants in targeted regions, classified based on clinical significance.
📊

Pathogenic or likely pathogenic variant detected; associated with genetic disorder

Result type: Positive

📊

No pathogenic variants detected in targeted regions

Result type: Negative

📊

Variant found but clinical significance unknown; further testing may be needed

Result type: Variant of Uncertain Significance

⚠️ When to Consult a Doctor:

If a pathogenic variant is detected or if symptoms persist, consult a genetic counselor or healthcare provider for management and family planning.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Limited to targeted regions below 50 Kb
  • ⚠Cannot identify novel mutations outside the panel

Risks & Considerations

  • ●Potential for psychological impact from results
  • ●Data privacy concerns
  • ●Risk of misinterpretation without genetic counseling

Interfering Factors

  • ●Poor sample quality
  • ●DNA degradation
  • ●Contamination during collection

Compare With Similar Tests

TestTargeted Sequencing- Below 50 KbWhole Genome SequencingWhole Exome SequencingChromosomal MicroarraySingle Gene Testing
ComparisonTargeted Sequencing- Below 50 Kb

Frequently Asked Questions

What is targeted sequencing below 50 Kb?
It is a genetic test that sequences specific regions of the genome smaller than 50 kilobases to diagnose genetic disorders, offering a cost-effective alternative to whole-genome sequencing.
How is this test different from whole-genome sequencing?
Targeted sequencing focuses only on regions associated with known disorders, making it faster and more affordable, while whole-genome sequencing covers the entire genome.
What is the cost of the test?
The cost is INR 960000, which includes sequencing, bioinformatics analysis, and interpretation of results.
How long does it take to get results?
The turnaround time is approximately 4-6 weeks from sample receipt.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
What symptoms indicate the need for this test?
Symptoms such as developmental delays, intellectual disability, heart defects, muscle weakness, and seizures may warrant testing, especially with a family history of genetic disorders.
How accurate is targeted sequencing?
Targeted sequencing is highly accurate for detecting variants in targeted regions, but accuracy depends on sample quality and the specific genes analyzed.
Can this test detect all genetic disorders?
No, it only detects disorders associated with the targeted genomic regions below 50 Kb; other tests may be needed for comprehensive analysis.
What should I do if I get a positive result?
Consult a genetic counselor or healthcare provider to understand the implications, management options, and family planning.
Is the test covered by insurance?
Coverage varies by insurance provider; it is not typically covered under government schemes like PMJAY or CGHS, but check with your insurer.
How do I prepare for the test?
No special preparation is required; simply follow collection instructions and consult your healthcare provider beforehand.
What are the risks of genetic testing?
Risks include potential psychological impact, data privacy concerns, and the possibility of uncertain results requiring further testing.
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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