HSD17B4 Gene D-Bifunctional Protein Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The HSD17B4 Gene D-Bifunctional Protein Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced screening method utilizes state-of-the-art Next-Generation Sequencing technology to detect mutations in the HSD17B4 gene, which plays a critical role in peroxisomal fatty acid beta-oxidation. D-bifunctional protein deficiency is an autosomal recessive disorder that affects multiple bodily systems, making early and accurate diagnosis essential for proper medical management and treatment planning.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets the HSD17B4 gene, which encodes the D-bifunctional protein essential for proper peroxisomal function. The test identifies:
- Pathogenic variants and mutations in the HSD17B4 gene
- Single nucleotide polymorphisms (SNPs) associated with disease
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations
- Carrier status for autosomal recessive inheritance
Technical Methodology
Utilizing Next-Generation Sequencing (NGS) technology, our test provides comprehensive coverage of the entire HSD17B4 gene coding region, including all exons, intron-exon boundaries, and regulatory regions. This high-resolution approach ensures maximum detection sensitivity and specificity, with analytical accuracy exceeding 99.9%.
Who Should Consider This Genetic Test
This specialized genetic screening is recommended for individuals presenting with:
- Unexplained neurological deterioration in infancy or childhood
- Developmental delays and regression of motor skills
- Hypotonia (low muscle tone) and weakness
- Seizures and abnormal brain development
- Facial dysmorphism and visual abnormalities
- Hearing impairment and sensory processing issues
- Family history of peroxisomal disorders or unexplained infant deaths
- Abnormal very long-chain fatty acid (VLCFA) levels
- Siblings of affected individuals for carrier screening
Clinical Indications
Healthcare providers typically recommend this test when clinical symptoms suggest peroxisomal biogenesis disorders, particularly when other metabolic screening tests show abnormal results. The test is especially valuable for establishing a definitive diagnosis in cases where symptoms overlap with other neurological or metabolic conditions.
Benefits of Genetic Testing
Undergoing the HSD17B4 Gene D-Bifunctional Protein Deficiency test provides numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of D-bifunctional protein deficiency
- Early Intervention: Enables prompt initiation of appropriate medical management
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Treatment Guidance: Helps direct specific therapeutic approaches and supportive care
- Prognostic Information: Provides insights into disease progression and expected outcomes
- Carrier Detection: Identifies asymptomatic carriers within families
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results with clear clinical implications:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the HSD17B4 gene consistent with D-bifunctional protein deficiency. This confirmation enables:
- Implementation of targeted treatment strategies
- Specialized nutritional management
- Neurological monitoring and intervention
- Family member screening and genetic counseling
Negative Result Interpretation
A negative result suggests that no disease-causing mutations were detected in the HSD17B4 gene. However, clinical correlation remains essential, as other genetic or metabolic conditions may produce similar symptoms.
Variant of Uncertain Significance (VUS)
In some cases, genetic variants of uncertain clinical significance may be identified. Our genetic counseling team provides comprehensive guidance on the implications of such findings and recommends appropriate follow-up testing when necessary.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Review of previous metabolic testing results
- Discussion of testing implications and potential outcomes
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, San Jose, and many other cities. Our network of certified collection facilities ensures easy access to this essential genetic testing service.
Take Action for Your Health
Don’t wait to get the answers you need for proper diagnosis and treatment. Our experienced genetic counselors and medical professionals are ready to guide you through the testing process and provide comprehensive support.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your HSD17B4 Gene D-Bifunctional Protein Deficiency NGS Genetic DNA Test. Take the first step toward understanding your genetic health and accessing personalized medical care tailored to your specific needs.
Early genetic testing can make a significant difference in managing metabolic disorders and improving quality of life. Contact us now to book your appointment and take control of your health journey with confidence and clarity.
