IGF1 Gene Growth Retardation with Deafness and Mental Retardation Due to IGF1 Deficiency NGS Genetic DNA Test
Understanding IGF1 Deficiency and Its Clinical Significance
The IGF1 Gene Growth Retardation with Deafness and Mental Retardation NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics. This comprehensive test specifically targets mutations in the IGF1 (Insulin-like Growth Factor 1) gene, which plays a crucial role in human growth and development. IGF1 deficiency represents a rare but significant genetic disorder that affects multiple body systems, leading to complex clinical presentations that require specialized diagnostic approaches.
Insulin-like Growth Factor 1 is a vital hormone mediator of growth hormone action, essential for normal postnatal growth and development. When genetic mutations disrupt IGF1 production or function, children experience profound growth failure along with additional neurological and sensory complications. The NGS (Next-Generation Sequencing) technology employed in this test provides unparalleled accuracy in detecting even the most subtle genetic variations that conventional testing might miss.
What This Advanced Genetic Test Detects
Our comprehensive NGS genetic analysis specifically identifies:
- Pathogenic variants in the IGF1 gene coding regions
- Missense, nonsense, and frameshift mutations affecting IGF1 production
- Copy number variations and structural rearrangements
- Regulatory region mutations impacting gene expression
- Compound heterozygous and homozygous mutations
The test utilizes state-of-the-art next-generation sequencing technology to examine the entire coding sequence of the IGF1 gene, including all exons and flanking intronic regions. This comprehensive approach ensures maximum detection sensitivity for various mutation types that could contribute to the clinical phenotype of growth retardation, deafness, and intellectual disability.
Who Should Consider IGF1 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with:
- Severe postnatal growth failure with height below the 3rd percentile
- Sensorineural hearing loss of unknown etiology
- Developmental delay or intellectual disability
- Family history of similar growth and developmental concerns
- Consanguineous parentage with affected family members
- Unexplained short stature despite normal growth hormone levels
- Characteristic facial features associated with IGF1 deficiency
Clinical Indications for Testing
Children displaying the classic triad of symptoms – growth retardation, hearing impairment, and cognitive challenges – represent the primary candidates for this diagnostic evaluation. Early genetic diagnosis can significantly impact treatment planning and family counseling, making timely testing essential for optimal patient outcomes.
Benefits of IGF1 Genetic DNA Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out IGF1 deficiency with high precision
- Treatment Guidance: Informs decisions regarding growth hormone therapy and other interventions
- Genetic Counseling: Provides families with recurrence risk information
- Early Intervention: Enables timely management of associated complications
- Family Planning: Assists in reproductive decision-making for affected families
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the IGF1 gene consistent with a diagnosis of IGF1 deficiency. This confirmation enables:
- Initiation of appropriate growth-promoting therapies
- Coordinated care with endocrinology, audiology, and developmental specialists
- Family member testing and genetic counseling
- Access to specialized support services and resources
Negative Result Interpretation
A negative result suggests that IGF1 gene mutations are not the cause of the clinical symptoms, guiding physicians toward alternative diagnostic considerations and additional testing strategies.
Variant of Uncertain Significance
In cases where genetic variants of uncertain clinical significance are identified, our team provides detailed analysis and recommendations for further evaluation and family studies.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Informed consent for genetic testing
- Documentation of relevant clinical findings and previous evaluations
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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many other cities. Our extensive network ensures accessible genetic testing services for families nationwide.
Take the Next Step Toward Answers
If you or your child are experiencing symptoms suggestive of IGF1 deficiency, don’t delay in seeking definitive answers. Our specialized genetic testing provides the clarity needed for appropriate medical management and family planning decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our compassionate genetic specialists are ready to guide you through the testing process and help you understand your results.
Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life. Take control of your health journey with comprehensive IGF1 genetic testing from America’s trusted genetic diagnostics provider.
