FAM111A Gene Kenny-Caffey Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The FAM111A Gene Kenny-Caffey Syndrome Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare genetic disorders affecting neurological and skeletal development. This specialized test utilizes advanced Next-Generation Sequencing technology to provide comprehensive analysis of the FAM111A gene, which plays a critical role in bone mineralization and calcium regulation.
What This Test Measures and Detects
This sophisticated genetic test specifically targets mutations in the FAM111A gene, which is responsible for encoding a protein essential for proper bone development and calcium homeostasis. The test can identify:
- Pathogenic variants in the FAM111A gene associated with Kenny-Caffey Syndrome Type 2
- Single nucleotide polymorphisms (SNPs) affecting gene function
- Insertion and deletion mutations impacting protein structure
- Copy number variations that may contribute to disease severity
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:
- Infants and children with growth retardation and developmental delays
- Individuals exhibiting skeletal abnormalities including cortical thickening of long bones
- Patients with hypocalcemia or abnormal calcium metabolism
- Those with family history of Kenny-Caffey Syndrome or similar skeletal disorders
- Individuals with unexplained neurological symptoms and bone density issues
- Patients with delayed fontanelle closure or dental abnormalities
Key Benefits of Genetic Testing
Undergoing the FAM111A Gene Kenny-Caffey Syndrome Type 2 NGS Genetic DNA Test offers numerous advantages:
- Accurate Diagnosis: Provides definitive identification of genetic mutations causing the syndrome
- Personalized Treatment: Enables targeted medical interventions based on specific genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management of symptoms and complications
- Comprehensive Analysis: Utilizes state-of-the-art NGS technology for thorough genetic assessment
- Medical Guidance: Supports healthcare providers in developing effective treatment strategies
Understanding Your Test Results
After completing the FAM111A Gene Kenny-Caffey Syndrome Type 2 NGS Genetic DNA Test, you will receive a comprehensive report detailing:
- Positive Result: Indicates the presence of pathogenic mutations in the FAM111A gene, confirming diagnosis of Kenny-Caffey Syndrome Type 2
- Negative Result: Suggests no detectable mutations in the FAM111A gene, though clinical correlation with symptoms is essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical impact requires further investigation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed interpretation from our genetic specialists, providing clear guidance on next steps and management recommendations.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| FAM111A Gene Kenny-Caffey Syndrome Type 2 NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. The FAM111A Gene Kenny-Caffey Syndrome Type 2 NGS Genetic DNA Test provides the definitive answers you need for informed medical care. Our experienced genetic counselors are available to discuss your testing options and answer any questions you may have.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic specialists. Take control of your genetic health with confidence and precision.
