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Vertebrate Genome De Novo Assembly and Annotation-Illumina Test

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Vertebrate Genome De Novo Assembly and Annotation-Illumina Test

Short Name: Vertebrate Genome Assembly

Also known as: De Novo Genome Assembly, Whole Genome Assembly and Annotation

Vertebrate Genome De Novo Assembly and Annotation-Illumina Test test available at DNA Labs India for ₹250,000. Uses Illumina Sequencing, De Novo Assembly, Genome Annotation on Extracted DNA samples. Results in Results are typically available within 8 weeks after sample receipt.. Free home collection in 300+ cities across India.

Genomic Sequencing🏠 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 vertebrate genome de novo assembly and annotation is to generate a complete and accurate reference genome for a species, enabling the identification of genetic variants, gene structures, and functional elements. This information is essential for studying disease mechanisms, developing diagnostic markers, and guiding therapeutic strategies. It also supports comparative genomics and evolutionary studies.

Test Code
6391
CPT Code
81479
ICD Code
Z01.89
Price
₹250,000
Sample Type
Extracted DNA
Result Time
Results are typically available within 8 weeks after sample receipt.
Fasting Required
No
Method
Illumina Sequencing, De Novo Assembly, Genome Annotation
Step 1

Sample Collection

No special preparation required. Ensure sample is collected in appropriate container.

Method: Blood or tissue sample

Step 2

Laboratory Analysis

Sample collection is performed by trained phlebotomist.

Step 3

Report Delivery

No specific aftercare required.

Timeline: Results are typically available within 8 weeks after sample receipt.

Patient Instructions

1
Before the Test:No special preparation required.
2
During the Test:The process involves DNA extraction, library preparation, sequencing, and bioinformatics analysis.
3
After the Test:Results are provided in a comprehensive report with assembly metrics and annotation files.

About This Test

Who Should Get This Test

The purpose of vertebrate genome de novo assembly and annotation is to generate a complete and accurate reference genome for a species, enabling the identification of genetic variants, gene structures, and functional elements. This information is essential for studying disease mechanisms, developing diagnostic markers, and guiding therapeutic strategies. It also supports comparative genomics and evolutionary studies.

How to Prepare

  • Use sterile DNA LoBind tube
  • Avoid repeated freeze-thaw cycles
  • Label tube with patient ID and date
  • Transport on dry ice if shipping

Doctor's Notes

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

"De novo genome assembly is a powerful tool for identifying novel genetic variants and understanding complex diseases. This service provides high-quality data essential for research and clinical applications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeExtracted DNA
Sample Volume2-5 µg
ContainerDNA LoBind tube
Collection MethodBlood or tissue sample

Sample Stability

Room temperature4 hours
Refrigerated (2-8°C)24 hours
Frozen (-20°C)1 week
Frozen (-80°C)1 month
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient DNA quantity
  • DNA degradation
  • Improper labeling

Understanding Your Results

The results of genome assembly and annotation are interpreted by bioinformatics experts and geneticists. Key metrics such as N50, BUSCO completeness, and gene count indicate the quality and completeness of the assembly. High-quality assemblies have high N50 and BUSCO scores, enabling reliable downstream analyses.
📊

Higher N50 indicates better assembly contiguity

📊

>90% indicates near-complete gene representation

📊

Typical vertebrate range 20,000-30,000

⚠️ When to Consult a Doctor:

If you are a researcher or clinician planning to use genome assembly for clinical diagnosis, consult with a geneticist to discuss the implications and appropriate use of the data.

Limitations

  • ⚠Short-read sequencing may miss large structural variants
  • ⚠Assembly of repetitive regions is challenging
  • ⚠Annotation accuracy depends on available gene models
  • ⚠Requires high-quality DNA sample

Risks & Considerations

  • ●No significant risks associated with sample collection
  • ●Minor bruising at blood draw site

Interfering Factors

  • ●DNA degradation
  • ●Contamination with non-target DNA
  • ●Low DNA quantity
  • ●Presence of repetitive sequences
  • ●Sequencing errors

Compare With Similar Tests

TestVertebrate Genome De Novo Assembly and Annotation-Illumina
ComparisonVertebrate Genome De Novo Assembly and Annotation-Illumina

Frequently Asked Questions

What is vertebrate genome de novo assembly?
It is the process of reconstructing a complete genome sequence of a vertebrate species without a reference genome, using high-throughput sequencing data.
What is the cost of this test?
The cost is INR 250,000, which includes sequencing, assembly, annotation, and data analysis.
What sample type is required?
Extracted DNA is required, typically from blood or tissue samples.
How long does it take to get results?
Results are available within 8 weeks after sample receipt.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across India.
What is Illumina technology?
Illumina is a high-throughput sequencing platform known for accuracy and cost-effectiveness, widely used for genome sequencing.
What is the turnaround time?
The turnaround time is 8 weeks.
Can this test be used for clinical diagnosis?
Yes, it can help identify genetic mutations associated with diseases, but should be interpreted by a geneticist.
What is the difference between de novo assembly and resequencing?
De novo assembly builds a genome without a reference, while resequencing aligns reads to an existing reference genome.
What is genome annotation?
Genome annotation is the process of identifying genes and other functional elements in the assembled genome.
Is this test covered by insurance?
Generally not covered; please check with your insurance provider.
What quality metrics are provided?
We provide N50, BUSCO completeness, gene count, and other assembly quality metrics.
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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