DHCR24 Gene Desmosterolosis NGS Genetic DNA Test
Comprehensive Genetic Analysis for Cholesterol Metabolism Disorders
The DHCR24 Gene Desmosterolosis NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare cholesterol biosynthesis disorders. This advanced test specifically targets mutations in the DHCR24 gene, which plays a critical role in the final step of cholesterol production. Desmosterolosis is an extremely rare autosomal recessive disorder characterized by the accumulation of desmosterol due to impaired cholesterol synthesis, leading to significant developmental and physical abnormalities.
What This Test Measures and Detects
Our DHCR24 Gene Desmosterolosis NGS Genetic DNA Test utilizes state-of-the-art Next-Generation Sequencing technology to comprehensively analyze the entire DHCR24 gene. The test specifically identifies:
- Pathogenic variants and mutations in the DHCR24 gene
- Single nucleotide polymorphisms affecting cholesterol biosynthesis
- Deletions, insertions, and copy number variations
- Compound heterozygous mutations causing desmosterolosis
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with specific clinical indications:
- Infants and children with developmental delays and growth retardation
- Patients exhibiting skeletal abnormalities including microcephaly
- Individuals with dysmorphic facial features and congenital anomalies
- Those with elevated desmosterol levels in plasma testing
- Family members of individuals diagnosed with desmosterolosis
- Couples with family history of cholesterol metabolism disorders planning pregnancy
Clinical Benefits of DHCR24 Genetic Testing
Undergoing the DHCR24 Gene Desmosterolosis NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Precise identification of the underlying genetic cause of symptoms
- Personalized Treatment: Enables targeted therapeutic interventions and management strategies
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely medical interventions to improve developmental outcomes
- Comprehensive Analysis: NGS technology ensures thorough examination of the entire gene
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your DHCR24 gene test results:
- Positive Result: Indicates the presence of pathogenic mutations confirming desmosterolosis diagnosis
- Negative Result: Suggests no detectable mutations in the DHCR24 gene analyzed
- Variant of Uncertain Significance: Requires additional clinical correlation and family studies
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include detailed explanations and recommendations for next steps, including consultation with our board-certified genetic counselors.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | DHCR24 Gene Desmosterolosis NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Availability and Convenient Testing
We have branches across the United States, making genetic testing accessible to patients nationwide. Our facilities are conveniently located in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and many other cities. Each location is equipped with state-of-the-art laboratory equipment and staffed by experienced genetic specialists.
Pre-Test Requirements and Genetic Counseling
Before undergoing the DHCR24 Gene Desmosterolosis NGS Genetic DNA Test, patients should provide:
- Complete clinical history of the individual being tested
- Participation in a genetic counseling session
- Development of a detailed pedigree chart documenting family members affected by cholesterol metabolism disorders
- Information about any previous cholesterol level testing or metabolic evaluations
Our genetic counseling services ensure patients fully understand the implications of testing and are prepared for potential outcomes.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. The DHCR24 Gene Desmosterolosis NGS Genetic DNA Test provides the answers you need for informed medical care and family planning. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your DHCR24 gene test. Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory.
