KCNH1 Gene Temple-Baraitser Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The KCNH1 Gene Temple-Baraitser Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the KCNH1 gene, which are responsible for Temple-Baraitser syndrome. This rare genetic disorder affects neurological development and presents with distinctive clinical features that can significantly impact quality of life. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variants, enabling precise diagnosis and informed medical decision-making.
What Does This Test Measure?
This comprehensive genetic test specifically targets the KCNH1 gene, which encodes a potassium channel protein crucial for proper neuronal function. The test identifies:
- Pathogenic variants and mutations in the KCNH1 gene
- Single nucleotide polymorphisms (SNPs) associated with Temple-Baraitser syndrome
- Copy number variations affecting gene function
- Novel genetic alterations that may contribute to disease manifestation
Using state-of-the-art NGS technology, our test provides complete coverage of the KCNH1 gene, ensuring no potential mutation goes undetected. The analysis includes comprehensive variant interpretation by our team of certified geneticists and molecular biologists.
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with the following symptoms or clinical features:
- Developmental delays in infancy and childhood
- Intellectual disability of unknown origin
- Distinctive facial features including prominent forehead, hypertelorism, and down-slanting palpebral fissures
- Neurological abnormalities such as seizures or movement disorders
- Family history of similar developmental conditions
- Unexplained dysmorphic features in pediatric patients
- Suspected genetic syndromes with overlapping symptoms
Key Benefits of KCNH1 Genetic Testing
Undergoing the KCNH1 Gene Temple-Baraitser Syndrome NGS Genetic DNA Test offers numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of Temple-Baraitser syndrome, eliminating diagnostic uncertainty
- Personalized Treatment Planning: Enables healthcare providers to develop targeted management strategies based on specific genetic findings
- Family Planning Guidance: Offers valuable information for reproductive decision-making and genetic counseling
- Early Intervention Opportunities: Facilitates timely implementation of developmental therapies and educational support
- Comprehensive Genetic Insight: Delivers detailed information about inheritance patterns and recurrence risks
- Research Contribution: Helps advance scientific understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic testing report provides clear, actionable information:
- Positive Result: Indicates the presence of a pathogenic variant in the KCNH1 gene, confirming Temple-Baraitser syndrome diagnosis
- Negative Result: Suggests no disease-causing mutations were detected in the KCNH1 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene
All results are accompanied by detailed interpretation and recommendations from our certified genetic counselors. We provide guidance on next steps, potential treatments, and family implications.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | KCNH1 Gene Temple-Baraitser Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 |
| Department | Genetics |
| Disease Type | Dysmorphology |
Pre-Test Requirements
Before scheduling your KCNH1 genetic test, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of potential implications and outcomes with healthcare providers
- Understanding of insurance coverage and financial considerations
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. The KCNH1 Gene Temple-Baraitser Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory.
