Whole Genome Sequencing
Whole Genome Sequencing (Mean 30x) NGS Panel, EDTA Blood** Price
Brief Details
What is a Whole Genome Sequencing Test?
A Whole Genome Sequencing (WGS) test is a comprehensive laboratory analysis that maps out your entire set of DNA, known as your genome. Think of your genome as the complete instruction manual for building and operating your body.
This test helps detect genetic variations (mutations) that can identify the cause of rare genetic disorders, determine your risk of developing certain conditions like cancer or heart disease, and guide personalised medical treatments.
What does the Whole Genome Sequencing Test measure?
The purpose of a whole genome sequencing test is to create a complete and detailed map of your unique genetic information. This detailed map allows doctors to pinpoint specific changes in your DNA that might affect your health:
- The Order of DNA Bases: It determines the exact sequence of the four chemical bases that make up DNA—adenine (A), guanine (G), cytosine (C), and thymine (T)
- Genetic Variants: It compares your DNA sequence to a standard reference sequence to identify differences called variants or mutations
- Single Nucleotide Polymorphisms (SNPs): Changes in a single "letter" of your DNA code
- Insertions and Deletions: Sections where small bits of DNA are either added or missing
- Copy Number Variations: Entire sections of genes that are repeated or deleted
- Disease-Causing Mutations: It identifies variants that are known to be pathogenic (disease-causing), providing a genetic explanation for your health condition
Whole Genome Sequencing Test: Who Needs It and Why It's Done
What Symptoms May Call for a Whole Genome Sequencing Test?
Doctors may recommend the test when you present with a complex set of symptoms that cannot be explained by standard tests. Common symptoms that may prompt this test include:
- Developmental delays or intellectual disability in children
- A combination of seemingly unrelated health problems affecting different body systems (such as heart defects, kidney problems, and hearing loss)
- Seizures or other neurological disorders with no clear cause
- Physical features that suggest an underlying genetic syndrome
- A strong family history of a specific condition, but no known mutation has been found through genetic mutation analysis
Who should get a Whole Genome Sequencing Test?
The test is not a routine check-up but is intended for specific health conditions. Target groups include:
- Patients with Undiagnosed Conditions: Individuals (often children) with complex medical conditions that doctors suspect are genetic but have not been able to diagnose
- Cancer Patients: To analyse the genetic makeup of a tumour, which can help doctors choose the most effective targeted therapy
- Individuals with a Strong Family History: People with significant family history of inherited diseases like certain cancers, heart conditions, or neurological disorders
- Pharmacogenomic Applications: To understand how your genes might affect your response to specific medications
- Preconception/Prenatal Planning: For couples with a family history of genetic disorders, to assess the risk of passing it on to their children
Why is a Whole Genome Sequencing Test done?
A whole genome sequencing test is done to find a genetic root cause for a medical condition. This provides a definitive diagnosis for hereditary disease testing, ending the uncertainty for families and allowing for highly personalised healthcare management and treatment plans.
Importance of a Whole Genome Sequencing Test
Unlike tests that look at a single gene or a small panel of genes, a whole genome sequencing test examines the entire genetic code at once, providing a holistic view.
This comprehensive approach helps in diagnosis and treatment by diagnosing rare genetic disorders that are often missed by other tests, providing families with answers and connecting them with support groups.
In oncology, whole genome sequencing helps tailor cancer treatment to the specific mutations in your tumour through precision medicine. It also guides doctors in choosing the safest and most effective medications based on your genetic profile.
Whole Genome Sequencing Test Booking & Reports – Metropolis Healthcare India
How to Book a Whole Genome Sequencing Test?
- Simple Online Booking
Booking can be done through the Metropolis Healthcare app or website. Select Whole Genome Sequencing Test, choose a convenient time slot, and provide your address for a blood test at home. You can also visit the nearest Metropolis Lab if you prefer to give the sample directly at the lab.
- Safe Home Sample Collection
Our trained phlebotomists ensure timely collection of your sample while strictly following all safety and hygiene protocols.
- Sample Tracking Updates
Stay informed at every step. From collection to testing, you can track your sample directly through the Metropolis Healthcare website.
- Accurate Laboratory Testing
Your sample is processed at our NABL & CAP accredited laboratories, where expert technicians ensure accurate results.
- Quick & Easy Reports
Receive your test reports promptly via email, WhatsApp, or by downloading them directly from the Metropolis Healthcare website or app.
Is home sample collection for Whole Genome Sequencing Test available near you?
Yes, home blood sample collection is available for whole genome sequencing tests. Our trained phlebotomists visit your home at your preferred time, following strict safety protocols to collect your blood sample. With Metropolis Healthcare's extensive network of over 10,000 touchpoints, we're committed to making advanced genetic testing accessible and reliable for you, wherever you are.
How Long Does It Take to Get a Whole Genome Sequencing Test Report?
Reports are usually available after 6 weeks by 6:00 PM once the sample reaches the lab.
Note: Reporting time may vary depending on your location.
Where can I see or get Whole Genome Sequencing Test results?
Test results from Metropolis Healthcare can be accessed through multiple convenient channels. You can log in to the Metropolis website using your credentials or use the Metropolis Healthcare app to view and download your reports. Additionally, test reports are sent via email or WhatsApp, and you also have the option to collect a physical copy directly from the pathology lab.
Interpreting Whole Genome Sequencing Test Results
What Your Whole Genome Sequencing Test Results May Indicate
The following table explains how whole genome sequencing results are classified and what each classification means for your health:
|
Classification |
Description |
Clinical Significance |
|
Pathogenic |
Disease-causing variation detected |
Confirms suspected disorder and explains symptoms |
|
Likely Pathogenic |
Very likely to contribute to disease development |
Strong evidence suggesting disease association |
|
Variant of Uncertain Significance (VUS) |
Unclear if disease-causing or benign |
Requires further testing or family studies |
|
Benign |
Non-disease causing variation |
No clinical concern |
|
Likely Benign |
Probably not disease-causing |
Minimal clinical significance |
Conditions that May Affect Whole Genome Sequencing Test Accuracy
Several factors can influence your whole genome sequencing test results and should be discussed with your doctor:
- Sample quality issues: Haemolysed, lipemic, icteric, or clotted blood samples can affect DNA extraction and sequencing quality
- Insufficient sample quantity: Inadequate blood volume may result in poor DNA yield and incomplete analysis
- Improper sample storage: Extreme temperatures or prolonged storage without proper conditions can degrade DNA
- Technical limitations: Large deletions over 10 base pairs or chromosomal rearrangements cannot be detected by this method
- Coverage gaps: Certain genes may not be covered completely, potentially missing some mutations
- Intronic variants: Variations within non-coding regions of genes are not assessed using this method
How is a Whole Genome Sequencing Test Done?
The whole genome sequencing test follows a systematic laboratory process to analyse your complete genetic information:
- A healthcare professional draws 3 to 5ml of blood from a vein in your arm using an EDTA vacutainer
- Your DNA is carefully extracted from the blood sample in the laboratory
- The prepared DNA libraries are sequenced to achieve mean coverage of 30X using advanced Illumina sequencing platform
- Raw sequencing data is aligned to the human reference genome and analysed using sophisticated bioinformatics tools
- Expert geneticists interpret the variants and prepare your comprehensive report
How Should You Prepare for a Whole Genome Sequencing Test?
Preparing for your whole genome sequencing test is straightforward and requires minimal preparation:
- You can eat and drink normally before the test
- Take all prescribed medications as usual unless specifically advised otherwise by your doctor
- Compile your family medical history, especially any known genetic conditions or hereditary diseases
- Ensure you have your doctor's test prescription and clinical history form
Diseases that a Whole Genome Sequencing Test Can Help Detect
Whole genome sequencing can identify genetic variations associated with a wide range of hereditary conditions and diseases:
- Rare genetic disorders: Neuronal ceroid lipofuscinosis, muscular dystrophies, and metabolic disorders
- Hereditary cancers: BRCA-related breast and ovarian cancers, Lynch syndrome, and familial adenomatous polyposis
- Cardiovascular conditions: Hypertrophic cardiomyopathy, long QT syndrome, and familial hypercholesterolaemia
- Neurological disorders: Huntington's disease, spinal muscular atrophy, and hereditary neuropathies
- Pharmacogenomic variants: Genetic variations affecting drug metabolism and response
- Developmental disorders: Intellectual disability syndromes and congenital anomalies
Whole Genome Sequencing Test/Packages that You Can Book With Metropolis Healthcare
The following table shows related genetic testing options available at Metropolis Healthcare:
|
Test/Package Name |
Purpose/Highlights |
|
Focuses on protein-coding regions for targeted genetic analysis |
|
|
Provides expert guidance for interpreting genetic test results |
|
|
MetExome 360 (Whole Exome & Whole Mitochndrial Sequencing) |
Comprehensive genetic test sequencing all protein-coding genes & mitochondrial genes to aid in diagnosing genetic disorders and rare diseases |
Frequently asked questions
Find quick answers to the most common questions about health tests, bookings, and reports.
Regular exercise, a balanced diet, avoiding smoking, maintaining a healthy weight, and managing stress all help reduce heart disease risk.
Common signs include irritability, trouble sleeping, headaches, difficulty concentrating, and muscle tension.
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Metropolis Healthcare is a leading diagnostic service provider in India. We are a team of dedicated professionals committed to ensuring you and your family receive the most accurate and timely healthcare solutions. We believe in making health care accessible, affordable and evidence-based. Our expert panel are equipped with the latest technology and manned by a certified team of over 4000+ technicians.
In diagnostic services, we have more than three decades of experience servicing diverse stakeholders health advantage packages for men, women and seniors, genetic fitness & corporation in over 650+ tests like Oncology, Neurology, Gynaecology, Haematology, and many more. Our diagnostic services are located in leading doctors and clinics and serve over 15+ cities in India.