LRP2 Gene Donnai-Barrow Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Disorder
The LRP2 Gene Donnai-Barrow Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the LRP2 gene, which is responsible for Donnai-Barrow syndrome. This rare autosomal recessive disorder affects multiple body systems and requires precise genetic diagnosis for proper clinical management and family planning decisions.
What is Donnai-Barrow Syndrome?
Donnai-Barrow syndrome is a complex genetic condition characterized by distinctive facial features, ocular abnormalities, hearing impairment, and developmental delays. The syndrome results from mutations in the LRP2 gene, which encodes the low-density lipoprotein receptor-related protein 2. This protein plays crucial roles in embryonic development and cellular signaling pathways.
What the Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology comprehensively analyzes the entire LRP2 gene to identify:
- Pathogenic variants and mutations in the LRP2 gene
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting the LRP2 gene region
- Novel mutations not previously documented in medical literature
- Carrier status for autosomal recessive inheritance patterns
Advanced NGS Technology Benefits
Utilizing state-of-the-art next-generation sequencing, our test provides unparalleled accuracy and comprehensive coverage of the LRP2 gene. This technology enables simultaneous analysis of multiple genetic regions with high sensitivity and specificity, ensuring reliable results for clinical decision-making.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Characteristic facial dysmorphism including hypertelorism, down-slanting palpebral fissures, and prominent forehead
- Ocular abnormalities such as high myopia, retinal detachment, or iris coloboma
- Sensorineural hearing loss or congenital deafness
- Developmental delays and intellectual disability
- Diaphragmatic hernia or omphalocele
- Agenesis of the corpus callosum
- Family history of Donnai-Barrow syndrome
- Consanguineous parents with suspected genetic risks
Pediatric and Genetic Counseling Applications
This test is particularly valuable in pediatric genetics for early diagnosis and intervention planning. Genetic counselors often recommend testing for families with affected members or when clinical features suggest Donnai-Barrow syndrome.
Benefits of Taking the LRP2 Gene Test
- Accurate Diagnosis: Provides definitive genetic confirmation of Donnai-Barrow syndrome
- Family Planning: Enables informed reproductive decisions and carrier testing
- Early Intervention: Facilitates timely management of associated complications
- Treatment Guidance: Helps tailor medical care to specific genetic findings
- Prognostic Information: Offers insights into potential disease progression
- Genetic Counseling: Supports comprehensive family genetic assessment
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Identifies pathogenic variants in the LRP2 gene confirming Donnai-Barrow syndrome diagnosis
- Carrier Status: Detects individuals with one mutated copy who may pass the condition to offspring
- Negative Result: No pathogenic variants detected, though clinical correlation remains important
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
Post-Test Genetic Counseling
All positive results include recommendations for genetic counseling to discuss implications for the patient and family members. Our genetic specialists help interpret complex findings and provide guidance for medical management.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| LRP2 Gene Donnai-Barrow Syndrome NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Pre-test Requirements: Clinical History and Genetic Counseling Session
- Specialty: Pediatrics and Genetics
- Method: NGS Technology
- Disease Category: Dysmorphology
Nationwide Testing Availability
GGC DNA has testing facilities across the United States, with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing centers ensures accessible, reliable testing services nationwide.
Book Your Genetic Test Today
Take the first step toward genetic clarity and comprehensive healthcare planning. Our experienced genetic counselors and medical professionals are ready to assist you with the testing process and result interpretation.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your LRP2 Gene Donnai-Barrow Syndrome NGS Genetic DNA Test. Early diagnosis can make a significant difference in managing this rare genetic condition and planning appropriate medical interventions.
Don’t wait to get the genetic answers you need. Contact GGC DNA now to book your comprehensive genetic analysis and take control of your genetic health journey.
