HESX1 Gene Septooptic Dysplasia NGS Genetic DNA Test
Understanding HESX1 Gene Septooptic Dysplasia
Septooptic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder characterized by a triad of features: underdevelopment of the optic nerves, pituitary gland abnormalities, and midline brain defects. The HESX1 gene plays a critical role in early brain and pituitary development, and mutations in this gene are responsible for approximately 1% of SOD cases. Our advanced NGS genetic DNA test provides comprehensive analysis of the HESX1 gene to identify pathogenic variants that cause this complex developmental disorder.
What the Test Measures and Detects
This sophisticated genetic test utilizes next-generation sequencing technology to thoroughly examine the HESX1 gene for:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Regulatory region abnormalities
- Novel pathogenic variants affecting gene function
The test provides comprehensive coverage of all coding exons and flanking intronic regions of the HESX1 gene, ensuring maximum detection sensitivity for mutations associated with septooptic dysplasia.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Vision abnormalities: Nystagmus, poor visual tracking, strabismus, or blindness
- Growth concerns: Short stature, growth hormone deficiency, or delayed development
- Hormonal imbalances: Thyroid dysfunction, adrenal insufficiency, or diabetes insipidus
- Neurological symptoms: Seizures, developmental delays, or hypotonia
- Family history: Known HESX1 mutations or family members with similar symptoms
- Prenatal findings: Abnormal brain development detected on ultrasound
Benefits of Taking the HESX1 Genetic Test
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of symptoms
- Personalized Treatment: Guides hormone replacement therapy and management strategies
- Family Planning: Provides recurrence risk information for future pregnancies
- Early Intervention: Enables proactive management of vision and endocrine issues
- Comprehensive Care: Facilitates multidisciplinary approach involving endocrinology, ophthalmology, and neurology
- Genetic Counseling: Offers professional guidance for understanding inheritance patterns
Understanding Your Test Results
Our comprehensive genetic counseling helps you interpret your results:
- Positive Result: Identifies a pathogenic mutation in the HESX1 gene, confirming genetic diagnosis of septooptic dysplasia
- Negative Result: No mutation detected in HESX1 gene, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry mutations that could be passed to offspring
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood Spot on FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms suggestive of septooptic dysplasia or have a family history of similar conditions, our HESX1 genetic test provides the answers you need. Our comprehensive approach includes pre-test genetic counseling to create detailed family pedigree charts and post-test result interpretation to ensure you fully understand your genetic profile.
Ready to schedule your HESX1 Gene Septooptic Dysplasia NGS Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with advanced testing technology and expert medical guidance.
