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DNA Labs India

PacBio Sequel- 1GB Test

DNA Labs India | ISO 9001:2015 Certified

PacBio Sequel- 1GB Test

Short Name: PacBio Sequel 1GB

Also known as: PacBio Sequel Sequencing, Long-Read Whole Genome Sequencing, SMRT Sequencing 1GB

PacBio Sequel- 1GB Test test available at DNA Labs India for ₹65,000. Uses PacBio Sequel (SMRT) Sequencing, Long-read whole genome sequencing on Extracted DNA samples. Results in Results are typically available within 4 weeks from sample receipt. You will be notified via email or SMS when the report is ready.. Free home collection in 300+ cities across India.

Molecular🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of PacBio Sequel 1GB is to provide a comprehensive and accurate genetic diagnosis by sequencing the entire genome with long-read technology. It helps identify disease-causing mutations, including those that are difficult to detect with conventional methods. This test is essential for patients with suspected genetic disorders, unexplained symptoms, or a family history of hereditary conditions. It enables early diagnosis, informed genetic counseling, and personalized treatment strategies.

Test Code
6451
CPT Code
81410
ICD Code
Z13.89
Price
₹65,000
Sample Type
Extracted DNA
Result Time
Results are typically available within 4 weeks from sample receipt. You will be notified via email or SMS when the report is ready.
Fasting Required
No
Method
PacBio Sequel (SMRT) Sequencing, Long-read whole genome sequencing
Step 1

Sample Collection

No special preparation is required. However, inform your doctor about any medications or supplements you are taking. For blood sample collection, no fasting is needed.

Method: Blood sample or extracted DNA

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist. If you are providing extracted DNA, ensure it is of high quality and quantity as per instructions.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be transported to the laboratory for analysis. Results will be available in approximately 4 weeks.

Timeline: Results are typically available within 4 weeks from sample receipt. You will be notified via email or SMS when the report is ready.

Patient Instructions

1
Before the Test:No special preparation required. Ensure you have a valid doctor's prescription if needed. Inform the lab about any prior genetic testing.
2
During the Test:The test involves a simple blood draw or submission of extracted DNA. The process is quick and painless.
3
After the Test:You can resume normal activities. Results will be shared via your preferred mode. Genetic counseling is recommended to understand the implications.

About This Test

Who Should Get This Test

The purpose of PacBio Sequel 1GB is to provide a comprehensive and accurate genetic diagnosis by sequencing the entire genome with long-read technology. It helps identify disease-causing mutations, including those that are difficult to detect with conventional methods. This test is essential for patients with suspected genetic disorders, unexplained symptoms, or a family history of hereditary conditions. It enables early diagnosis, informed genetic counseling, and personalized treatment strategies.

How to Prepare

  • For blood sample: Use EDTA tube (provided by DNA Labs India).
  • For extracted DNA: Ensure DNA is in a sterile tube with at least 2-5 µg concentration.
  • Label the tube with patient name and date of collection.
  • Store sample at 2-8°C if not shipped immediately.

Doctor's Notes

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

"Long-read sequencing is crucial for detecting structural variants and repeat expansions that are often missed by short-read methods. This test provides comprehensive genomic data for accurate diagnosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeExtracted DNA
Sample Volume2-5 µg
ContainerDNA tube (provided)
Collection MethodBlood sample or extracted DNA

Sample Stability

Blood: 7 days at 2-8°C
Extracted DNA: 1 month at -20°C
Avoid repeated freeze-thaw cycles
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood sample
  • Insufficient DNA quantity (<1 µg)
  • DNA degraded or fragmented
  • Sample not labeled correctly

Understanding Your Results

The PacBio Sequel 1GB test provides a comprehensive genomic analysis. Results are interpreted by clinical geneticists and reported with clear clinical significance. Variants are classified according to ACMG guidelines.
📊

Pathogenic variant detected

Indicates a genetic cause for the condition. Genetic counseling and targeted management recommended.

📊

Likely pathogenic variant

Highly suggestive of disease causation. Further family studies may be needed.

📊

Variant of uncertain significance (VUS)

Insufficient evidence to determine pathogenicity. Additional testing or research may be required.

📊

No clinically significant variants

No pathogenic variants identified. Consider other diagnostic approaches.

⚠️ When to Consult a Doctor:

Consult a geneticist or your referring physician if you have symptoms suggestive of a genetic disorder, a family history of hereditary conditions, or if you are planning a family and have concerns about genetic risks.

Limitations

  • ⚠This test does not detect all possible genetic variants; some non-coding or regulatory variants may be missed.
  • ⚠Interpretation may be limited by incomplete knowledge of gene-disease associations.
  • ⚠Incidental findings may be identified; genetic counseling is recommended.
  • ⚠Results should be interpreted in the context of clinical findings and family history.

Risks & Considerations

  • ●No significant physical risks associated with blood draw.
  • ●Potential psychological impact of genetic results.
  • ●Risk of incidental findings (unrelated to the reason for testing).

Interfering Factors

  • ●Poor quality or degraded DNA sample
  • ●Contamination with non-human DNA
  • ●Insufficient DNA quantity
  • ●Recent blood transfusion (within 2 weeks) may dilute nucleated cells
  • ●Bone marrow transplant recipients may have mixed DNA profile

Compare With Similar Tests

TestPacBio Sequel- 1GBWhole Exome Sequencing (WES)Chromosomal Microarray (CMA)Sanger Sequencing
ComparisonPacBio Sequel- 1GB

Frequently Asked Questions

What is PacBio Sequel 1GB test?
PacBio Sequel 1GB is a long-read whole genome sequencing test that provides comprehensive genetic analysis. It uses Single Molecule Real-Time (SMRT) technology to detect various genetic mutations, including structural variants and repeat expansions, which are often missed by other methods.
How much does the PacBio Sequel 1GB test cost?
The test costs INR 65,000 at DNA Labs India. This includes home sample collection and online report access. The price is discounted and available across India.
What is the sample requirement for this test?
The test requires extracted DNA (2-5 µg) or a blood sample. If you are providing blood, it will be collected in an EDTA tube. DNA extraction will be performed at the laboratory.
Do I need to fast before the test?
No, fasting is not required for this test. You can eat and drink normally before sample collection.
How long does it take to get results?
Results are typically available within 4 weeks from the time the sample is received at the laboratory. You will be notified once the report is ready.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings. This service is available in over 200 cities across India.
What conditions can this test detect?
This test can detect a wide range of genetic disorders, including rare diseases, hereditary cancers, repeat expansion disorders (like Fragile X and Huntington's), and structural chromosomal abnormalities.
Who should consider this test?
Individuals with unexplained symptoms suggestive of a genetic disorder, a family history of hereditary conditions, or those who have had inconclusive results from other genetic tests may benefit from this test.
Are there any risks associated with the test?
The physical risks are minimal (only a blood draw). However, genetic testing may reveal unexpected findings that could have psychological or familial implications. Genetic counseling is recommended.
Will my insurance cover the cost?
Insurance coverage varies. Currently, this test is not covered under government schemes like PMJAY or CGHS. Private insurance may cover it depending on your policy. We recommend checking with your provider.
How is this test different from whole exome sequencing?
Whole exome sequencing only reads the protein-coding regions (about 1-2% of the genome), while PacBio Sequel 1GB sequences the entire genome with long reads, allowing detection of structural variants and repeat expansions that are often missed by exome sequencing.
Can this test be done during pregnancy?
This test is not typically used for prenatal diagnosis. For prenatal testing, other methods like amniocentesis or chorionic villus sampling are used. Consult your obstetrician for appropriate 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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