DMD/BMD Mutation Screening 26 Exons Prenatal Test
Comprehensive Prenatal Genetic Screening for Muscular Dystrophy
The DMD/BMD Mutation Screening 26 Exons Prenatal test represents a critical advancement in prenatal genetic diagnostics, specifically designed to detect mutations in the dystrophin gene that cause Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). This sophisticated screening provides expecting parents with essential information about their baby’s genetic health, enabling informed decisions and early intervention planning.
What This Test Measures and Detects
This comprehensive prenatal screening utilizes advanced Multiplex End Point PCR technology to analyze 26 specific exons of the DMD gene, which is located on the X chromosome. The test specifically targets:
- Deletion mutations in the dystrophin gene
- Duplication events affecting gene function
- Point mutations within critical coding regions
- Genetic variations associated with DMD and BMD
The dystrophin gene is the largest known human gene, spanning approximately 2.4 million base pairs, and mutations in this gene lead to progressive muscle degeneration and weakness characteristic of both Duchenne and Becker muscular dystrophy.
Who Should Consider This Prenatal Screening
This specialized prenatal test is particularly recommended for:
- Pregnant women with a family history of Duchenne or Becker muscular dystrophy
- Women known to be carriers of DMD gene mutations
- Couples with previous children diagnosed with muscular dystrophy
- Families with unexplained muscle weakness or elevated creatine kinase levels
- Women with abnormal ultrasound findings suggesting muscle abnormalities
Clinical Benefits of Early Detection
Early identification of DMD/BMD mutations through prenatal screening offers numerous advantages:
- Enables informed reproductive decision-making
- Facilitates early intervention and treatment planning
- Provides opportunity for specialized medical care coordination
- Allows for genetic counseling and family planning
- Reduces diagnostic uncertainty and anxiety
- Supports preparation for potential healthcare needs
Understanding Your Test Results
Test results are carefully analyzed and interpreted by our team of certified genetic counselors and medical geneticists. Your report will include:
- Clear identification of any detected mutations
- Interpretation of mutation significance and clinical implications
- Risk assessment for disease development
- Recommendations for follow-up testing if needed
- Genetic counseling referral information
Negative results indicate no mutations were detected in the 26 exons screened, while positive results will specify the exact mutation identified and its clinical significance.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $262 |
| Regular Price | $350 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Sample Collection and Processing
This prenatal test requires specialized sample collection performed by qualified healthcare professionals:
- Sample Type: Amniotic fluid, Chorionic villi, or Cord blood
- Turnaround Time: 4-5 days
- Test Components: Sterile container, Sterile Normal Saline Container, EDTA Vacutainer (2ml)
Pre-Test Requirements
A doctor’s prescription is required for DMD/BMD mutation screening prenatal testing. Please note that prescriptions are not applicable for surgery and pregnancy cases or individuals planning to travel abroad.
Book Your Prenatal Genetic Screening Today
Take the first step toward comprehensive prenatal genetic health assessment. Our experienced genetic counselors are available to discuss your testing options and answer any questions you may have about DMD/BMD mutation screening.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or learn more about our comprehensive prenatal genetic testing services.
Early detection through advanced genetic screening provides valuable information for your family’s health journey. Trust our expertise in genetic diagnostics to deliver accurate, reliable results with the compassionate care you deserve.