KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Pediatric Syndrome
The KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, offering precise identification of mutations responsible for this rare congenital disorder. Goldberg-Shprintzen syndrome is characterized by a complex constellation of symptoms including Hirschsprung disease (megacolon), intellectual disability, and distinctive facial features. Our advanced testing methodology provides families and healthcare providers with definitive diagnostic information crucial for appropriate medical management and genetic counseling.
What This Test Measures and Detects
This specialized genetic test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to comprehensively analyze the KIF1BP gene for pathogenic variants. The test specifically identifies:
- Point mutations, insertions, and deletions in the KIF1BP gene
- Novel genetic variants associated with Goldberg-Shprintzen syndrome
- Inheritance patterns and carrier status determination
- Genetic markers correlating with disease severity and progression
The KIF1BP gene encodes a kinesin motor protein essential for proper neuronal development and gastrointestinal function. Mutations in this gene disrupt normal cellular processes, leading to the characteristic features of Goldberg-Shprintzen syndrome.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with the following clinical features:
- Infants and children with Hirschsprung disease or megacolon
- Patients with developmental delays or intellectual disability
- Individuals with distinctive facial features including hypertelorism, downslanting palpebral fissures, and prominent nasal bridge
- Patients with microcephaly or other neurological abnormalities
- Family members of individuals diagnosed with Goldberg-Shprintzen syndrome
- Cases with unexplained gastrointestinal and neurological symptoms
Key Benefits of Genetic Testing
Undergoing the KIF1BP gene test provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out Goldberg-Shprintzen syndrome with high accuracy
- Personalized Treatment: Enables targeted medical interventions and surgical planning
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Facilitates timely implementation of developmental support services
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of pathogenic KIF1BP gene mutation, confirming Goldberg-Shprintzen syndrome diagnosis
- Negative Result: Suggests absence of detectable mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines inheritance patterns and recurrence risks for family members
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure proper understanding and next steps.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing 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. Our network of certified genetic testing facilities ensures accessible, high-quality care regardless of your location.
Pre-Test Requirements and Sample Collection
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Sample collection options: Blood, Extracted DNA, or One drop Blood on FTA Card
- Turnaround time: 3 to 4 weeks from sample receipt
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your child’s health condition create unnecessary stress. Our KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions and peace of mind. Our team of genetic specialists is ready to guide you through every step of 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.
