Clinical Exome Gene Panel by NGS, EDTA Blood**

What is a Clinical Exome Sequencing Test? 

A clinical exome sequencing test is an advanced genetic test that reads and analyses the DNA sequence of all protein-coding genes in your body. This collection of protein-coding regions is called the "exome" and makes up about 1-2% of your total DNA, yet contains approximately 85% of known disease-causing genetic mutations. The test helps detect the genetic cause of rare diseases, complex neurodevelopmental disorders, or other unexplained health conditions that standard diagnostic tests have failed to identify. 

What does the Clinical Exome Sequencing Test measure? 

The test performs a comprehensive analysis of your genetic code to identify potential disease-causing variations: 

• Sequences your complete exome DNA code containing thousands of genes 

• Compares your genetic sequence to a standard human reference genome 

• Identifies specific genetic variants or mutations that differ from normal patterns 

• Interprets findings to determine if variants are harmless or disease-causing 

• Provides detailed analysis by geneticists and bioinformaticians to explain your symptoms 

Clinical Exome Sequencing Test: Who Needs It and Why It's Done 

What Symptoms May Call for a Clinical Exome Sequencing Test? 

Your doctor may recommend this specialised test when you have complex symptoms that cannot be explained through routine testing: 

• Significant developmental delays or intellectual disability 

• Multiple birth defects or unusual facial features 

• Seizures or epilepsy, especially starting at a young age 

• Disorders affecting multiple body systems like brain, heart, and kidneys 

• Progressive muscle weakness or movement disorders 

• Suspected but unconfirmed rare genetic syndrome 

Who should get a Clinical Exome Sequencing Test? 

This diagnostic test is recommended for specific patient groups who need genetic answers: 

• Patients with undiagnosed conditions who have undergone extensive medical testing without receiving a definitive diagnosis 

• Family members for trio-analysis, where the test is performed on the patient and their biological parents 

• Individuals with complex medical problems requiring a comprehensive genetic evaluation 

• Children with multiple unexplained symptoms affecting various organ systems 

Why is a Clinical Exome Sequencing Test done? 

This test helps find a single, underlying genetic cause for complex medical problems, providing a clear diagnosis, guiding treatment decisions, and helping families understand the condition and health risks better. 

Importance of a Clinical Exome Sequencing Test 

The clinical exome sequencing test represents one of the most comprehensive genetic diagnostic tools available today. For families who have spent years seeking answers through a "diagnostic odyssey," this test can provide immense relief and clarity by putting a name to the condition and ending cycles of repeated testing. 

Knowing the exact genetic cause enables personalised treatment approaches. Some forms of genetic conditions respond better to specific medications, and a diagnosis helps doctors anticipate future health problems and provide proactive care. The test also helps patients avoid unnecessary procedures that are unlikely to be effective for their specific genetic condition. 

Additionally, a diagnosis provides crucial information for family planning and genetic counselling, helping determine the risk of the condition occurring in future children and allowing for informed family planning decisions. 

Clinical Exome Sequencing Test Booking & Reports – Metropolis Healthcare India 

How to Book a Clinical Exome Sequencing Test? 

1. Simple Online Booking 
   Booking can be done through the Metropolis Healthcare app or website. Select Clinical Exome 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. 
    
2. Safe Home Sample Collection 
   Our trained phlebotomists ensure timely collection of your sample while strictly following all safety and hygiene protocols.
    
3. Sample Tracking Updates 
   Stay informed at every step. From collection to testing, you can track your sample directly through the Metropolis Healthcare website. 
    
4. Accurate Laboratory Testing 
   Your sample is processed at our NABL & CAP accredited laboratories, where expert technicians ensure accurate results.
    
5. 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 Clinical Exome Sequencing Test available near you? 

Yes, home blood sample collection is available for the clinical exome sequencing test. Our trained phlebotomists visit your location at your preferred time, ensuring safe and hygienic blood sample collection. Metropolis Healthcare is committed to making specialised genetic testing accessible and reliable for families seeking answers to complex medical conditions through our comprehensive network across India. 

How Long Does It Take to Get a Clinical Exome Sequencing Test Report?  

Reports are usually available after 4 weeks once the sample reaches the pathology lab. 

Note: Reporting time may vary depending on your location. 

Where can I see or get Clinical Exome 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 lab. 

Interpreting Clinical Exome Sequencing Test Results 

What Your Clinical Exome Sequencing Test Results May Indicate 

The following table explains how clinical exome assay genes are classified and what they mean for your health: 

Conditions that May Affect Clinical Exome Sequencing Test Accuracy 

Several factors can influence the accuracy and interpretation of your clinical exome sequencing test results: 

• Bone marrow transplantation or recent blood transfusions can affect genetic material analysis 

• Mislabelled samples or inaccurate reporting of clinical information may lead to misinterpretation 

• Mosaicism, where genetic changes are present in only a small percentage of cells, may not be detectable 

• Inaccurate family relationship information can result in incorrect interpretation of inherited patterns 

• Technical limitations may miss large deletions, duplications, or complex chromosomal rearrangements 

• Genes with similar sequences or low complexity regions may have decreased detection sensitivity 

How is a Clinical Exome Sequencing Test Done? 

The clinical exome sequencing test follows a systematic laboratory process to analyse your genetic material: 

• Blood sample collection from a vein in your arm using standard venipuncture technique 

• DNA extraction from the blood sample in specialised laboratory conditions 

• Targeted gene capture using custom capture kits to isolate protein-coding regions 

• Library preparation and sequencing on advanced Illumina sequencing platforms 

• Bioinformatics analysis using sophisticated software to identify genetic variants 

• Expert interpretation by geneticists to determine clinical significance of findings 

• Comprehensive report generation with detailed variant analysis and recommendations 

How Should You Prepare for a Clinical Exome Sequencing Test? 

Preparing for your clinical exome sequencing test is straightforward and requires minimal preparation: 

• No fasting required: You can eat and drink normally before the test 

• Continue regular medications: Take all prescribed medicines as usual unless specifically advised otherwise 

• Provide complete clinical history: Ensure accurate medical and family history information is available 

• Stay well-hydrated: Drinking water helps make blood sample collection easier 

• Inform about recent medical procedures: Mention any recent blood transfusions or medical treatments 

Diseases that a Clinical Exome Sequencing Test Can Help Detect 

This comprehensive genetic test can help identify the underlying cause of various complex medical conditions: 

• Autism spectrum disorder and other neurodevelopmental conditions 

• Haemophilia and other bleeding disorders 

• Rare syndromic disorders affecting multiple organ systems 

• Cystic fibrosis and other genetic lung conditions 

• Polycystic kidney disease and hereditary kidney disorders 

• Atypical haemolytic uremic syndrome and blood vessel disorders 

• Genetic epilepsy syndromes and seizure disorders 

• Intellectual disability with unknown genetic cause 

• Multiple congenital anomalies and birth defects 

Clinical Exome Sequencing Test/Packages that You Can Book With Metropolis Healthcare 

Metropolis Healthcare offers comprehensive genetic testing options to support your diagnostic journey: