Understanding the CARDIOCARE GENETICS MYBPC3 25 bp Deletion Genetic Test
A specialized genetic screening that detects a critical 25-base pair deletion in the MYBPC3 gene, affecting approximately 100 million people of South Asian ancestry worldwide. This advanced diagnostic technology provides crucial cardiac health risk assessment using cutting-edge genetic analysis techniques.
What is the MYBPC3 Gene?
The MYBPC3 gene encodes cardiac myosin binding protein-C (cMyBP-C), a vital thick filament contractile protein responsible for regulating sarcomere organization and cardiac contractility. Mutations in this gene represent a common cause of familial hypertrophic cardiomyopathy.
This hereditary condition accounts for up to 30 percent of cardiomyopathy cases and is characterized by abnormal thickening of the heart muscle, which can lead to serious cardiac complications if left undetected.
Genetic Variant Characteristics
South Asian prevalence
4% carrier rate in South Asian populations
Incomplete penetrance
Variable expression and delayed onset
25 bp deletion
Located in intron 32 of MYBPC3 gene
This specific genetic variant is characterized by a 25 base pair deletion in intron 32 of the MYBPC3 gene. It shows particularly high prevalence among people of South Asian descent, with approximately 4% of this population carrying the mutation. The variant displays incomplete penetrance with delayed onset, meaning carriers may develop symptoms at different ages and with varying severity.
Health Implications
Asymmetric left ventricular thickening
Characteristic heart muscle enlargement affecting the left ventricle
Diastolic dysfunction
Impaired filling of the heart during relaxation phase
Clinical symptoms
May include dyspnea, angina, palpitations, or sudden cardiac events
Test Methodology
DNA Collection
Samples obtained through blood draw or saliva collection
PCR Amplification
Specific primers target the MYBPC3 gene region, generating 403 bp products from wild-type alleles and 378 bp products from mutant alleles
Result Interpretation
Non-carriers show only the 403 bp product, homozygous carriers show only the 378 bp product, and heterozygous carriers display both product lengths
Risk Assessment
Individuals carrying the MYBPC3 25 bp deletion have significantly compromised left ventricle ejection fraction and higher risk of severe left ventricular dysfunction. Clinical presentations vary widely, ranging from mild symptoms to severe cardiomyopathy requiring intervention, highlighting the importance of early detection and monitoring.
Future Perspectives
Gene Replacement Therapy
Emerging research focuses on delivering functional copies of the MYBPC3 gene to affected cardiac cells, potentially correcting the genetic defect at its source.
Protein Replacement
Pre-clinical studies demonstrate promising results using adeno-associated virus vector transfer to deliver functional cMyBP-C protein directly to cardiomyocytes.
Precision Medicine
Tailored treatment approaches based on specific genetic profiles could revolutionize management strategies for carriers of the MYBPC3 deletion.
Conclusion
Targeted Screening
Genetic screening of at-risk populations, particularly those with South Asian ancestry, can identify carriers before symptoms develop.
Personalized Medicine
Advanced genetic testing provides individualized medical insights, enabling tailored monitoring and treatment strategies.
Empowered Health Decisions
Early detection empowers individuals with critical health information, allowing for proactive cardiac care and family planning.
Contact Cardiocare Genetics
Ready to take a proactive step for your cardiac health? Order the MYBPC3 screening test today.
Our genetics specialists are available to answer your questions and guide you through the testing process.
Reach our dedicated support team at +91 90632 17741 to schedule your screening or discuss personalized genetic counseling options.