STAMBP Gene Microcephaly-Capillary Malformation Syndrome NGS Genetic DNA Test
Comprehensive Introduction to STAMBP Genetic Testing
The STAMBP Gene Microcephaly-Capillary Malformation Syndrome NGS Genetic DNA Test represents a significant advancement in neurological genetic diagnostics. This specialized test focuses on identifying mutations in the STAMBP (STAM Binding Protein) gene, which plays a crucial role in cellular signaling pathways and endosomal trafficking. When mutations occur in this gene, they can lead to Microcephaly-Capillary Malformation (MIC-CAP) syndrome, a rare autosomal recessive disorder characterized by severe neurological and vascular abnormalities.
Understanding the genetic basis of MIC-CAP syndrome is essential for accurate diagnosis, prognosis, and family planning. The STAMBP gene encodes a protein involved in the endosomal sorting complex required for transport (ESCRT) pathway, which regulates protein degradation and signal transduction. Disruptions in this pathway can result in the characteristic features of MIC-CAP syndrome, making genetic testing a vital tool for confirming clinical suspicions and guiding appropriate medical interventions.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based STAMBP genetic test specifically targets:
- Pathogenic variants and mutations in the STAMBP gene
- Single nucleotide variants (SNVs) affecting protein function
- Small insertions and deletions (indels) disrupting gene expression
- Copy number variations (CNVs) that may impact gene dosage
- Compound heterozygous mutations in autosomal recessive inheritance patterns
The test utilizes state-of-the-art Next-Generation Sequencing technology, providing high-resolution analysis of the entire STAMBP gene coding region and flanking intronic sequences. This comprehensive approach ensures maximum detection sensitivity for various mutation types that could contribute to MIC-CAP syndrome development.
Clinical Indications and Who Should Consider Testing
This specialized genetic test is recommended for individuals presenting with:
- Congenital microcephaly (significantly reduced head circumference at birth)
- Multiple cutaneous capillary malformations or hemangiomas
- Developmental delay and intellectual disability
- Neurological abnormalities including seizures or epilepsy
- Growth retardation and failure to thrive
- Characteristic facial features associated with MIC-CAP syndrome
- Family history suggestive of autosomal recessive inheritance pattern
- Unexplained neurological symptoms in infancy or early childhood
Essential Benefits of STAMBP Genetic Testing
Undergoing STAMBP genetic testing provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out MIC-CAP syndrome with high accuracy
- Prognostic Information: Helps predict disease progression and potential complications
- Family Planning: Enables informed reproductive decisions for at-risk couples
- Personalized Management: Guides targeted therapeutic approaches and interventions
- Early Intervention: Facilitates timely implementation of supportive therapies
- Genetic Counseling: Provides basis for comprehensive family genetic counseling
- Research Contribution: Contributes to ongoing understanding of rare neurological disorders
Understanding Your Test Results
Interpreting STAMBP genetic test results requires professional medical expertise:
Positive Result Interpretation
A positive result indicating pathogenic STAMBP mutations confirms the diagnosis of Microcephaly-Capillary Malformation syndrome. This finding typically involves biallelic mutations (affecting both gene copies) consistent with autosomal recessive inheritance. Positive results should be discussed with a genetic counselor to understand implications for the patient and family members.
Negative Result Interpretation
A negative result suggests that no pathogenic STAMBP mutations were detected. However, this does not completely rule out MIC-CAP syndrome, as rare mutations or technical limitations could affect detection. Clinical correlation remains essential, and additional genetic testing may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
Some results may identify genetic changes with unclear clinical significance. These variants require careful interpretation considering clinical features, family history, and emerging research evidence. Periodic re-evaluation may be necessary as scientific knowledge advances.
Test Specifications and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | STAMBP Gene Microcephaly-Capillary Malformation Syndrome 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 | Neurological Genetics |
Pre-Test Preparation and Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation of the patient
- Genetic counseling session prior to testing
- Development of detailed pedigree chart documenting family members affected with similar conditions
- Discussion of testing implications, benefits, and limitations
- Informed consent process addressing potential psychological impacts
Nationwide Accessibility and Convenience
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 collection centers ensures easy access to this specialized genetic testing regardless of your location.
Take Action Today for Genetic Clarity
Don’t let uncertainty about neurological symptoms delay proper diagnosis and management. Our STAMBP genetic testing provides the answers families need to make informed healthcare decisions. With our discounted price of $500 and comprehensive genetic analysis, you can gain valuable insights into potential genetic causes of neurological and vascular abnormalities.
Ready to schedule your STAMBP genetic test? Contact our genetic specialists today at +1(267) 388-9828 to discuss your testing needs, schedule an appointment, or get answers to your questions about Microcephaly-Capillary Malformation syndrome genetic testing.
Our dedicated team of genetic counselors and neurological specialists are available to guide you through the testing process, from initial consultation to result interpretation and follow-up care planning. Take the first step toward genetic clarity and personalized medical management today.
