DHCR7 Gene Smith-Lemli-Opitz Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Smith-Lemli-Opitz Syndrome
The DHCR7 Gene Smith-Lemli-Opitz Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited disorders. This sophisticated test utilizes next-generation sequencing technology to analyze the DHCR7 gene, which plays a critical role in cholesterol biosynthesis. Smith-Lemli-Opitz syndrome is an autosomal recessive condition characterized by multiple congenital anomalies and developmental challenges, making early and accurate diagnosis essential for optimal patient management.
What This Test Measures and Detects
This advanced genetic test specifically targets the DHCR7 gene located on chromosome 11q13.4, which encodes the enzyme 7-dehydrocholesterol reductase. The test identifies:
- Point mutations, deletions, and insertions in the DHCR7 gene
- Pathogenic variants that disrupt cholesterol synthesis
- Both homozygous and compound heterozygous mutations
- Novel genetic variants through comprehensive sequencing
- Carrier status for family members
The test’s high sensitivity and specificity ensure reliable detection of genetic abnormalities responsible for Smith-Lemli-Opitz syndrome, providing clinicians with definitive diagnostic information.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with characteristic symptoms or risk factors, including:
- Infants with multiple congenital anomalies and developmental delays
- Children exhibiting distinctive facial features (microcephaly, ptosis, anteverted nostrils)
- Patients with syndactyly of toes 2-3 or polydactyly
- Individuals with growth retardation and failure to thrive
- Those with intellectual disability and behavioral abnormalities
- Family members of diagnosed individuals for carrier testing
- Prenatal cases with ultrasound abnormalities suggestive of the syndrome
Clinical Benefits of Early Diagnosis
Early identification of Smith-Lemli-Opitz syndrome through genetic testing provides numerous clinical advantages:
- Targeted Treatment Planning: Enables cholesterol supplementation therapy to improve outcomes
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Comprehensive Management: Facilitates multidisciplinary care involving genetics, neurology, and developmental specialists
- Prognostic Information: Helps predict disease severity and anticipate potential complications
- Early Intervention: Allows for timely implementation of developmental therapies and educational support
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with clinical context:
- Positive Result: Indicates pathogenic mutations in both copies of the DHCR7 gene, confirming Smith-Lemli-Opitz syndrome diagnosis
- Carrier Status: Identifies individuals with one mutated copy who are typically asymptomatic but can pass the condition to offspring
- Negative Result: Suggests absence of detectable DHCR7 mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation for interpretation
All results include detailed explanations and recommendations for follow-up care, with genetic counseling available to help you understand the implications.
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| DHCR7 Gene Smith-Lemli-Opitz Syndrome NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures you receive the highest quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our DHCR7 Gene Smith-Lemli-Opitz Syndrome NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and comprehensive care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your results with clarity and confidence.
