Detailed Report in 10 working days
Quick & Accurate Whole Exome Sequencing
What is Rapid Exome Sequencing?
The Rapid Exome Sequencing test sequences all the coding regions within the genome, enabling accurate identification of variations in any gene. Rapid exome sequencing follows the same principles as whole exome sequencing, but it provides results twice as fast.
When should you consider a Rapid Exome test?
- Cases where infants are critically ill and admitted to neonatal and pediatric intensive care units (NICUs and PICUs
- When delayed diagnosis can have a serious impact on patient health.
- Situations where the physician cannot provide any plausible diagnosis from the symptoms.
- When building a detailed diagnostic strategy is causing a delay in treatment for the patient.
- In cases where invasive investigations are not feasible due to the patient’s health condition.
Who should undergo the Rapid Exome Sequencing?
Patients with undiagnosed genetic diseases.
Those presenting heterogeneous phenotypes, who are at risk of:
- Intellectual disability/developmental delay
- Cardiomyopathy
- Epilepsy
- Undiagnosed metabolic disorders
- Immunodeficiency
- Ataxia
- Neuropathy
- Deafness
- Bone and connective tissue disorders; Short stature; Complex dysmorphic features
Whole Exome Analysis can be used to detect inherited variants that cause recessive and dominant diseases. Additionally, it can detect de novo variants present in the fetus but not in the parents.
Why should you consider MedGenome?
Unmatched experience of 250,000+ exomes
South asia largest database with 5,000,000+variants
Extensively validated clinical grade pineline
End-to-end automation
ML-based variant
CAP-accredited; extensively validated pipeline
Consistent proficiency testing through ‘External Quality Monitoring Programs’
Two levels of analysis; review by clinical geneticists
Free pre and post-test counseling
Sample Details
| Rapid Exome | Details |
|---|---|
 Sample requirements |  Blood (3-5ml in EDTA tubes)Extracted DNA samples (1µg high-quality DNA) |
| Required forms |
|
| TAT | 10 working days |
Blood (3-5ml in EDTA tubes)
Extracted DNA samples (1µg high-quality DNA)
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