Rapid Exome Sequencing

Timely solution for complex genetic disorders (results in 10 days)

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What is Rapid Exome Sequencing?

Rapid Exome Sequencing (RES) is a cutting-edge genetic test that sequences all the coding regions of the genome, including both nuclear and mitochondrial genes. This enables accurate identification of variations in any gene. This method follows the same principles as ExomeMAX (Enhanced WES) but offers results in half the time, providing a crucial advantage in clinical settings. Critically ill infants with suspected genetic disorders are frequently admitted to neonatal and pediatric intensive care units (NICUs and PICUs). Genetic testing plays a significant role in guiding treatment strategies and making intervention decisions, with a confirmed molecular diagnosis impacting 44-88% of cases. Rapid Exome Sequencing has shown clinical effectiveness, reducing the need for invasive or unnecessary procedures.

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Comprehensive Validation and Coverage for Precise Clinical Insights

Parameter	ExomeMAX	Whole Exome
Genes	20,000+	20,000+
Design	62.4 Mb	43.2 Mb
Mitochondrial Genes	Yes	Optional
Coverage	Coding and selective noncoding regions	Coding regions
Application	Novel and known disease	Novel and known disease
CAP Accreditation	Yes	Yes

Clinical Applications of Rapid Exome Sequencing

Critical Illness in Infants: Essential for infants in NICUs and PICUs with suspected genetic disorders.
Time-Sensitive Diagnoses: Necessary when diagnosis delays could worsen health outcomes.
Diagnostic Ambiguity: For cases where symptoms do not align with any known diagnosis.
Complex Diagnostic Strategies: Useful for streamlining diagnostics in complicated cases where other diagnostic test results are unclear or require multiple additional tests.
Non-Feasibility of Invasive Investigations: Beneficial in cases where invasive tests are too risky for the infants.

Specifications

Sequencing Method: NGS (Next Generation Sequencing).
Coverage Depth: Mean depth of >80-100X across the exome.
Validation: End to end validation based on control samples and 100% concordance based on reported variants for SNPs/InDels and CNVs. CNVs pipeline evaluated by orthogonally validated sample with known Copy number variants.
Analysis: Analysis of SNVs/ InDels and CNVs by proprietary interpretation software and backed by largest Indian database of over 3 million variants.
Sample Type: Chorionic villus sampling (CVS) / amniotic fluid (AF) / cultured amniotic fluid / cord blood / cardiac blood / products of conception tissue (POC) / peripheral blood / direct DNA / DNA isolated from cell lines or cultured cells.

Exome Tests Offered by MedGenome

Rapid Exome Sequencing

Sample Type: Blood (3- 5 mL in EDTA tubes)
TAT: 10 working days
Test Code: MGM2627

TRIO - Rapid Exome Sequencing

Sample Type: Blood (3- 5 mL in EDTA tubes)
TAT: 10 working days
Test Code: MGM2628

Key Highlights of MedGenome's Rapid Exome Sequencing Test

Comprehensive Coverage

Sequences all coding regions of the genome, including both nuclear and mitochondrial genes, for thorough genetic analysis.

Fast Turnaround

Results are delivered within 10 working days, enabling timely clinical decision-making.

Reduction in Invasive Testing

Rapid exome sequencing test has shown efficacy in clinical care, decreasing unnecessary invasive investigations.

Largest Unique Variant Database

Access to South Asia's largest variant database with over 27 million genetic variants, providing a robust foundation for precise diagnosis.

CAP Accreditation & Quality Proficiency

MedGenome is CAP-accredited and conducts external quality monitoring programs to maintain adherence to the highest testing standards.

Pre- and Post-Test Counselling

Offers comprehensive counselling support both before and after testing, helping patients and families understand and navigate their genetic information.

Prenatal Evaluation and Decision-Making

In the prenatal setting, RES can be explored for the fetus with scan abnormalities for quick evaluation and decision making.

What is Rapid Exome Sequencing?

Rapid exome sequencing is a genetic test that examines all the coding regions (exons) of your genome, including both nuclear and mitochondrial genes. This test is designed to quickly and accurately identify variations in genes that may be responsible for genetic disorders. The rapid nature of this test lies in its ability to deliver results in just 10 working days, which is about half the time it takes for standard whole-exome sequencing. Exons are the parts of genes responsible for making proteins, and any variation in these areas can cause diseases. This test allows clinicians to quickly determine if a genetic disorder is causing a patient’s symptoms.

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When to Consider a Rapid Exome Sequencing Test?

Situation	Why Choose Rapid Exome Sequencing (RES)?
Critically ill infants in NICUs or PICUs	Genetic disorders are a common cause of prolonged hospital stays. Early diagnosis allows for timely and targeted treatment.
Unclear diagnosis	When doctors cannot pinpoint the cause of symptoms using standard tests, RES can provide valuable genetic insights.
Urgent need for a diagnosis	In time-sensitive cases where delays could impact treatment, RES delivers faster results than traditional genetic tests.
Invasive tests are not an option.	For patients too fragile for invasive procedures, this simple blood-based test offers a safer alternative.

How Does Rapid Exome Sequencing Support Timely Diagnosis of Rare or Complex Genetic Conditions?

A delay in diagnosis can be risky for infants admitted to NICUs or PICUs. Many such cases are due to genetic disorders, and early identification is crucial for proper treatment. Genetic testing, like the rapid exome sequencing, can play a significant role in accelerating and guiding the treatment procedure.

Genetic testing directly impacts treatment management and interventional decisions in 44-88% of patients with confirmed molecular diagnoses. With a timely diagnosis, doctors can avoid unnecessary or invasive tests and focus on the right treatment from the beginning. This not only helps in faster recovery but also reduces long-term complications for the child.

Who Should Undergo Rapid Exome Sequencing?

How Does Rapid Exome Sequencing Work?

Why Choose MedGenome for Rapid Exome Sequencing?

MedGenome offers unmatched experience and reliability in the field of genetic testing. Here’s why you should consider MedGenome for Rapid exome sequencing:

Expertise in Exome Sequencing: With over 250,000 exomes sequenced, MedGenome has extensive experience in this field, ensuring accurate and reliable results.
South Asia’s Largest Variant Database: Our database has 5,000,000+ genetic variants, making it one of the largest in South Asia. This allows us to compare your genetic data with a vast pool of known variants, improving the accuracy of the diagnosis.
High-Quality Standards: MedGenome follows CAP-accredited processes, and our test pipeline is extensively validated. This means you can trust the quality and reliability of our results.
Cutting-Edge Technology: We use machine learning (ML)-based variant analysis, deep annotation, and end-to-end automation to ensure quick and accurate results.
Pre- and Post-Test Genetic Counselling: We provide free genetic counselling both before and after the test, helping you understand the process and results.
Two Levels of Review: Our results go through two levels of analysis and are reviewed by clinical geneticists, ensuring thoroughness and accuracy.

Frequently Asked Questions (FAQs)

How much does rapid exome sequencing cost in India?
The cost of rapid exome sequencing can vary depending on the specific case and the facility where the test is performed. It’s best to contact MedGenome for competitive pricing, shorter turnaround time, and precise results.
What samples are needed for rapid exome sequencing?
Chorionic Villus Sampling (CVS) / Amniotic Fluid (AF) / Cultured Amniotic Fluid / Cord Blood / Cardiac Blood / Products of Conception Tissue (POC) / Peripheral Blood / Direct DNA / DNA Isolated from Cell Lines or Cultured Cells.
How long does it take to get results from rapid exome sequencing?
With MedGenome's rapid exome sequencing, you can expect to receive a detailed report within 10 working days. This quick turnaround time helps make timely decisions regarding the patient’s treatment plan.
Are there risks associated with rapid exome sequencing?
Rapid exome sequencing is a relatively safe test. The main procedure involves drawing a blood sample, which carries minimal risk, such as slight discomfort or bruising at the needle site. The test itself does not pose any direct risks to the patient.

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