HSD17B4 Gene D-Bifunctional Protein Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Peroxisomal Disorders
The HSD17B4 Gene D-Bifunctional Protein Deficiency NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare inherited metabolic conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the HSD17B4 gene, which encodes the D-bifunctional protein—a crucial enzyme complex essential for peroxisomal beta-oxidation of fatty acids. When this protein malfunctions due to genetic mutations, it leads to severe metabolic disruptions affecting neurological development, vision, hearing, and overall physical growth.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the HSD17B4 gene located on chromosome 5q23.1, analyzing all coding regions and splice sites to identify pathogenic variants including:
- Missense, nonsense, and frameshift mutations
- Splice site alterations affecting protein function
- Small insertions and deletions disrupting enzyme activity
- Compound heterozygous mutations causing autosomal recessive inheritance
The test provides definitive diagnosis by detecting mutations that impair the three enzymatic activities of D-bifunctional protein: enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and sterol carrier protein function.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with symptoms suggestive of peroxisomal disorders, particularly:
- Infants and children with unexplained developmental delays or regression
- Patients exhibiting neonatal hypotonia progressing to hypertonia
- Individuals with seizures that are difficult to control with standard medications
- Children showing facial dysmorphism including high forehead, broad nasal bridge
- Patients with sensorineural hearing loss or vision impairment
- Individuals with hepatomegaly or liver dysfunction of unknown origin
- Those with abnormal brain MRI findings including white matter changes
- Family history of similar neurological or metabolic conditions
Significant Benefits of Early Genetic Testing
Undergoing the HSD17B4 genetic test provides numerous advantages for patients and families:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and enables targeted treatment approaches
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt initiation of supportive therapies and management strategies
- Prognostic Information: Helps healthcare providers anticipate disease progression and complications
- Research Contribution: Advances understanding of rare peroxisomal disorders for future treatments
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with clinical context:
- Positive Result: Identification of pathogenic mutations confirms D-bifunctional protein deficiency diagnosis, enabling immediate implementation of specialized care protocols
- Negative Result: No detected mutations in HSD17B4 gene, suggesting alternative diagnoses should be considered
- Variant of Uncertain Significance: Rare genetic changes requiring additional family studies for proper interpretation
- Carrier Status: Identification of single mutation carriers with 25% risk of affected offspring in partner carriers
All results include detailed genetic counseling recommendations and follow-up testing options.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art laboratories ensure consistent, reliable results regardless of collection location.
Take Action for Genetic Clarity
Don’t let diagnostic uncertainty delay proper care. Our specialized genetic testing team is ready to assist you with comprehensive HSD17B4 gene analysis and personalized genetic counseling. Early diagnosis can significantly impact treatment outcomes and quality of life for individuals with peroxisomal disorders.
Schedule your genetic consultation today by calling our dedicated genetics hotline at +1(267) 388-9828 or book your test online through our secure patient portal.
Our genetic counselors are available to discuss pre-test requirements, including the importance of providing detailed clinical history and participating in genetic counseling sessions to create comprehensive family pedigree charts for optimal test interpretation.
