ANKRD11 Gene KBG Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for KBG Syndrome
The ANKRD11 Gene KBG Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with KBG syndrome, a rare genetic disorder characterized by distinctive physical features, developmental delays, and intellectual disabilities. This advanced genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the ANKRD11 gene, enabling accurate diagnosis and personalized medical management strategies.
What This Test Measures and Detects
This specialized genetic test specifically targets the ANKRD11 gene, which plays a crucial role in normal development and neurological function. The test detects:
- Pathogenic variants and mutations in the ANKRD11 gene
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting the ANKRD11 gene region
- Novel genetic changes associated with KBG syndrome presentation
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with symptoms suggestive of KBG syndrome, including:
- Children with developmental delays and intellectual disabilities
- Individuals with characteristic facial features (macrodontia, wide eyebrows, prominent ears)
- Patients with skeletal abnormalities and short stature
- Those with behavioral challenges including ADHD or autism spectrum traits
- Individuals with a family history of similar developmental concerns
- Patients with unexplained neurological or developmental symptoms
Significant Benefits of Genetic Testing
Undergoing the ANKRD11 Gene KBG Syndrome NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out KBG syndrome with high precision
- Personalized Care: Enables targeted interventions and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely access to appropriate therapies and support services
- Medical Management: Guides appropriate monitoring for associated health concerns
- Psychological Relief: Reduces diagnostic uncertainty for families and patients
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of a pathogenic ANKRD11 gene mutation consistent with KBG syndrome diagnosis
- Negative Result: Suggests that KBG syndrome is unlikely, though other genetic conditions may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Provides information about inheritance patterns and recurrence risks
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications and Requirements
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Pre-test Requirements: Clinical History and Genetic Counseling Session
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Pediatric Genetics
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about developmental concerns continue. Our ANKRD11 Gene KBG Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions and personalized care planning. Our experienced genetic counselors are available to discuss your specific situation and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your genetic health journey with confidence and clarity.
