DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Perlman Syndrome
The DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Perlman syndrome, a rare congenital overgrowth disorder. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide comprehensive screening of the DIS3L2 gene, which plays a critical role in cellular growth regulation and development.
What Does This Test Detect?
This advanced genetic test specifically targets mutations in the DIS3L2 gene that are responsible for Perlman syndrome. The test identifies:
- Pathogenic variants in the DIS3L2 gene
- Single nucleotide polymorphisms (SNPs) associated with the condition
- Copy number variations affecting gene function
- Structural abnormalities in the genetic sequence
- Inheritance patterns for family planning purposes
Who Should Consider This Test?
This genetic screening is recommended for individuals presenting with clinical features suggestive of Perlman syndrome, including:
- Neonates and infants with macrosomia (overgrowth at birth)
- Individuals with characteristic facial features including prominent forehead and macrocephaly
- Patients with renal abnormalities such as nephroblastomatosis or Wilms tumor
- Children exhibiting developmental delays and intellectual disability
- Individuals with a family history of Perlman syndrome or related overgrowth disorders
- Patients with unexplained congenital anomalies affecting multiple organ systems
Clinical Benefits of Genetic Testing
Undergoing the DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Perlman syndrome with high precision
- Early Intervention: Enables timely medical management and surveillance
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted treatment approaches based on genetic findings
- Risk Assessment: Identifies susceptibility to associated conditions like Wilms tumor
- Peace of Mind: Reduces diagnostic uncertainty for affected families
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Possible outcomes include:
- Positive Result: Indicates the presence of a pathogenic DIS3L2 mutation, confirming Perlman syndrome diagnosis
- Negative Result: Suggests absence of known DIS3L2 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines inheritance patterns and recurrence risks for family members
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | DIS3L2 Gene Perlman 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 |
| Specialty | Pediatrics, Genetics |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of testing implications with a qualified genetic counselor
- Informed consent process completion
Nationwide Accessibility
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 genetic testing facilities ensures accessible, reliable service regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay appropriate medical care. Our specialized genetic testing team is ready to assist you in understanding your genetic health and making informed decisions about your medical future. Contact us today to schedule your DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test and take control of your genetic health journey.
Call or WhatsApp us now at +1(267) 388-9828 to book your comprehensive genetic analysis and receive professional genetic counseling services.
