SHH Gene Holoprosencephaly Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Brain Development Disorders
The SHH Gene Holoprosencephaly Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for complex brain development conditions. This advanced test specifically targets mutations in the SHH (Sonic Hedgehog) gene, which plays a crucial role in embryonic brain development and patterning. Holoprosencephaly type 3 is a severe congenital disorder characterized by incomplete separation of the brain’s cerebral hemispheres, leading to significant neurological and developmental challenges.
What Does This Test Measure?
This comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the entire SHH gene for pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the SHH gene
- Regulatory region mutations impacting gene expression
The SHH gene encodes the Sonic Hedgehog protein, a critical signaling molecule that directs the development of the forebrain during early embryonic stages. Mutations in this gene disrupt normal brain hemisphere separation, leading to the spectrum of conditions known as holoprosencephaly.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Clinical features suggestive of holoprosencephaly spectrum disorders
- Family history of holoprosencephaly or related brain malformations
- Unexplained developmental delays with facial abnormalities
- Single central incisor or other midline facial defects
- Prenatal ultrasound findings indicating brain development concerns
- Previous pregnancies with neural tube defects or brain anomalies
Key Benefits of Genetic Testing
Undergoing the SHH Gene Holoprosencephaly Type 3 test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of brain development abnormalities
- Family Planning Guidance: Informs recurrence risks for future pregnancies
- Medical Management: Helps tailor appropriate medical care and interventions
- Early Intervention: Enables timely developmental support and therapies
- Genetic Counseling: Provides families with comprehensive understanding of inheritance patterns
- Research Contribution: Advances scientific understanding of brain development disorders
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates a pathogenic mutation in the SHH gene, confirming genetic diagnosis of holoprosencephaly type 3
- Negative Result: No disease-causing mutations detected in the SHH gene, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry mutations that could affect future generations
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | SHH Gene Holoprosencephaly Type 3 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
| Specialty | Pediatrics, Genetics, Dysmorphology |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. 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
Don’t let uncertainty about genetic conditions affect your family’s future. Our SHH Gene Holoprosencephaly Type 3 NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic diagnostics with confidence.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test appointment or to speak with our genetic counseling team. Take control of your genetic health journey with accurate, reliable testing from America’s leading genetics laboratory.
