HUWE1 Gene Mental Retardation X-Linked Syndromic Turner Type NGS Genetic DNA Test
Comprehensive Genetic Testing for X-Linked Intellectual Disability
The HUWE1 Gene Mental Retardation X-Linked Syndromic Turner Type NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the HUWE1 gene, which are responsible for a specific form of X-linked syndromic intellectual disability. This condition, also known as Turner-type mental retardation syndrome, affects neurological development and presents with distinct clinical features that can be challenging to diagnose without advanced genetic testing.
What Does This Test Measure?
This specialized genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the HUWE1 gene for pathogenic variants. The test specifically detects:
- Point mutations, deletions, and insertions in the HUWE1 gene
- X-linked inheritance patterns affecting male patients more severely
- Genetic variations associated with syndromic intellectual disability
- Mutations that disrupt normal neurological development
- Genetic markers for Turner-type mental retardation syndrome
Who Should Consider This Test?
This genetic test is particularly important for individuals presenting with the following symptoms and clinical indications:
- Children with unexplained developmental delays and intellectual disability
- Male patients with X-linked pattern of inheritance in family history
- Individuals with characteristic facial dysmorphisms and physical features
- Patients with neurological symptoms including seizures or movement disorders
- Families with multiple affected male relatives suggesting X-linked inheritance
- Individuals with growth abnormalities and microcephaly
- Patients with behavioral abnormalities and autism spectrum features
Key Benefits of HUWE1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out HUWE1-related disorders with high precision
- Family Planning Guidance: Provides essential information for genetic counseling and reproductive decisions
- Treatment Planning: Helps healthcare providers develop targeted intervention strategies
- Prognostic Information: Offers insights into disease progression and potential complications
- Early Intervention: Enables timely implementation of supportive therapies and educational plans
- Genetic Counseling: Supports families in understanding inheritance patterns and recurrence risks
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your HUWE1 gene test results:
- Positive Result: Indicates the presence of a pathogenic mutation in the HUWE1 gene, confirming the diagnosis of X-linked syndromic intellectual disability
- Negative Result: Suggests that HUWE1 mutations are not the cause of the clinical symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires additional family studies and research
- Carrier Status: For female relatives, identifies carrier status which has implications for family planning
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | HUWE1 Gene Mental Retardation X-Linked Syndromic Turner Type 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 |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Comprehensive neurological and developmental assessment
Nationwide Testing Availability
We proudly offer this specialized genetic testing service 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, San Jose, and many other cities. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of X-linked syndromic intellectual disability, don’t wait to get answers. Our HUWE1 genetic test provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your test and begin your journey toward understanding and managing this complex condition.
Call or WhatsApp us now at +1(267) 388-9828 to book your HUWE1 Gene Mental Retardation X-Linked Syndromic Turner Type NGS Genetic DNA Test and take advantage of our special $500 USD pricing.
