Nx Gen Sequencing 4H Syndrome Test
Comprehensive Genetic Analysis for 4H Leukodystrophy
The Nx Gen Sequencing 4H Syndrome Test represents a breakthrough in genetic diagnostics for rare neurological disorders. This advanced molecular test utilizes cutting-edge next-generation sequencing technology to identify mutations in the POLR3A and POLR3B genes, which are responsible for 4H Syndrome – a complex condition affecting multiple body systems. As a leader in genetic testing, General Genetics Corporation provides this comprehensive analysis to help healthcare providers deliver accurate diagnoses and personalized treatment plans.
What is 4H Syndrome?
4H Syndrome, also known as Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism Syndrome, is a rare autosomal recessive leukodystrophy characterized by progressive neurological deterioration. The condition typically presents in childhood and affects the central nervous system’s white matter development, dental formation, and endocrine function. Early and accurate diagnosis through genetic testing is crucial for proper management and family planning.
What the Test Measures and Detects
Our Nx Gen Sequencing 4H Syndrome Test specifically analyzes:
- POLR3A Gene Mutations: Comprehensive sequencing of the entire POLR3A gene to identify pathogenic variants affecting RNA polymerase III function
- POLR3B Gene Analysis: Detailed examination of POLR3B gene sequences for mutations disrupting normal cellular transcription
- Variant Classification: Advanced bioinformatics analysis to classify identified variants as pathogenic, likely pathogenic, or variants of uncertain significance
- Copy Number Variations: Detection of larger genetic deletions or duplications that may contribute to disease presentation
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Neurological Symptoms: Developmental delay, progressive ataxia, tremor, dysarthria, or cognitive impairment
- Dental Abnormalities: Hypodontia (missing teeth), delayed tooth eruption, or abnormal tooth morphology
- Endocrine Concerns: Delayed puberty, growth hormone deficiency, or hypogonadotropic hypogonadism
- MRI Findings: Evidence of hypomyelination on brain imaging studies
- Family History: Known family history of leukodystrophies or consanguineous parents
Specialist Recommendations
This test is commonly ordered by:
- Neurologists: For patients with unexplained neurological deterioration or abnormal brain imaging
- Pediatricians: For children with developmental delays and multiple system involvement
- Dentists: When encountering patients with significant dental abnormalities alongside other systemic symptoms
- Genetic Counselors: For comprehensive family risk assessment and reproductive planning
Benefits of Taking the 4H Syndrome Test
Diagnostic Clarity and Precision
Our Nx Gen Sequencing technology provides unparalleled accuracy in identifying the genetic basis of 4H Syndrome. Unlike traditional testing methods, next-generation sequencing offers comprehensive coverage of both POLR3A and POLR3B genes, ensuring no pathogenic variant goes undetected.
Clinical Management Advantages
- Targeted Treatment Planning: Enable development of personalized care strategies based on specific genetic findings
- Prognostic Information: Provide families with clearer understanding of disease progression and expected outcomes
- Family Risk Assessment: Identify carrier status in family members and assess recurrence risks
- Reproductive Options: Facilitate informed family planning decisions through genetic counseling
- Research Contribution: Contribute to ongoing scientific understanding of leukodystrophies and potential therapeutic developments
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive test report provides detailed interpretation of your genetic results:
- Positive Result: Identification of pathogenic mutations in POLR3A or POLR3B genes confirms 4H Syndrome diagnosis
- Negative Result: No pathogenic variants detected; however, clinical correlation remains essential as other genetic causes may exist
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact identified – follow-up testing or family studies may be recommended
- Carrier Status: Identification of single pathogenic variant indicating carrier status without disease manifestation
Clinical Correlation
All results should be interpreted in the context of clinical presentation, family history, and additional diagnostic findings. Our genetic counselors are available to help healthcare providers and patients understand the implications of test results and develop appropriate management plans.
Test Pricing and Availability
| Price Type | Amount (USD) | Details |
|---|---|---|
| Discount Price | $586 | Limited time special pricing |
| Regular Price | $650 | Standard comprehensive testing rate |
Testing Process and Timeline
- Sample Collection: 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes
- Shipping Instructions: Ship refrigerated – DO NOT FREEZE
- Required Documentation: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory
- Turnaround Time: Samples processed daily by 9 AM; Reports delivered within 40 working days
Nationwide Testing Availability
General Genetics Corporation maintains testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our nationwide network ensures accessible genetic testing services for patients and healthcare providers throughout the country.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about neurological symptoms delay proper diagnosis and treatment. Our Nx Gen Sequencing 4H Syndrome Test provides the comprehensive genetic analysis needed to identify the underlying cause of complex neurological and developmental conditions.
Ready to schedule your test? Contact our genetic specialists today:
Call or WhatsApp: +1(267) 388-9828
Our team is available to answer your questions, discuss insurance coverage options, and help you schedule testing at one of our convenient locations. Take control of your health journey with definitive genetic testing from General Genetics Corporation.
