CHRM3 Gene Prune Belly Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Prune Belly Syndrome
The CHRM3 Gene Prune Belly Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool designed to identify mutations in the CHRM3 gene, which plays a critical role in the development of prune belly syndrome. This rare congenital disorder, also known as Eagle-Barrett syndrome, affects approximately 1 in 35,000 to 1 in 50,000 live births and is characterized by a distinctive triad of symptoms including abdominal wall muscle deficiency, urinary tract abnormalities, and bilateral cryptorchidism in males.
What Does This Test Measure?
This advanced genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the CHRM3 gene for pathogenic variants. The test specifically detects:
- Point mutations and single nucleotide variants in the CHRM3 gene
- Small insertions and deletions affecting gene function
- Copy number variations that may disrupt normal gene expression
- Regulatory region mutations impacting gene regulation
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with clinical features suggestive of prune belly syndrome, including:
- Newborns with characteristic wrinkled, prune-like abdominal appearance
- Infants with urinary tract abnormalities detected during prenatal ultrasound
- Children with bilateral undescended testicles (cryptorchidism)
- Patients with recurrent urinary tract infections or renal dysfunction
- Individuals with family history of prune belly syndrome
- Couples with previous affected pregnancies seeking genetic counseling
Clinical Benefits of Genetic Testing
Undergoing the CHRM3 gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms clinical suspicion of prune belly syndrome
- Treatment Guidance: Helps tailor surgical and medical management strategies
- Prognostic Information: Provides insights into potential disease progression
- Family Planning: Enables informed reproductive decisions for at-risk families
- Early Intervention: Facilitates timely management of associated complications
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates presence of pathogenic CHRM3 mutation, confirming prune belly syndrome diagnosis
- Negative Result: Suggests absence of detectable CHRM3 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Requires further clinical correlation and family studies
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CHRM3 Gene Prune Belly Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of test implications and potential outcomes
- Informed consent process completion
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about prune belly syndrome affect your family’s future. Our specialized genetic testing provides the answers you need for informed medical decisions and comprehensive care planning. Contact our genetic counseling team today to schedule your CHRM3 gene test and take control of your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to book your CHRM3 Gene Prune Belly Syndrome NGS Genetic DNA Test and receive professional genetic counseling services.
