CYP24A1 Gene Hypercalcemia Infantile Type NGS Genetic DNA Test
Understanding Infantile Hypercalcemia and CYP24A1 Gene Testing
Infantile hypercalcemia is a rare metabolic disorder characterized by abnormally high calcium levels in the blood during infancy, which can lead to serious health complications if left undiagnosed. The CYP24A1 Gene Hypercalcemia Infantile Type NGS Genetic DNA Test represents a breakthrough in early detection and management of this condition. This comprehensive genetic analysis utilizes cutting-edge next-generation sequencing technology to identify mutations in the CYP24A1 gene, which plays a critical role in vitamin D metabolism regulation.
The CYP24A1 gene encodes the enzyme 25-hydroxyvitamin D-24-hydroxylase, responsible for breaking down active vitamin D metabolites. When mutations occur in this gene, the enzyme’s function is impaired, leading to excessive vitamin D activity and subsequent hypercalcemia. Early diagnosis through genetic testing is essential for implementing appropriate dietary modifications and medical interventions that can prevent long-term complications such as nephrocalcinosis, kidney stones, and growth retardation.
What the Test Measures and Detects
This advanced genetic test specifically targets the CYP24A1 gene using next-generation sequencing technology to identify pathogenic variants associated with infantile hypercalcemia. The test provides comprehensive analysis of:
- Point mutations, deletions, and insertions within the CYP24A1 gene
- Single nucleotide variants affecting enzyme function
- Copy number variations that may impact gene expression
- All coding regions and splice sites of the CYP24A1 gene
The test’s high sensitivity and specificity ensure accurate detection of both known and novel mutations, providing clinicians with definitive diagnostic information. By identifying the specific genetic abnormality, healthcare providers can tailor treatment strategies to address the underlying metabolic dysfunction rather than just managing symptoms.
Who Should Consider This Test
This genetic test is recommended for infants and children presenting with clinical symptoms suggestive of hypercalcemia or those with a family history of calcium metabolism disorders. Key indications include:
Clinical Symptoms in Infants:
- Persistent vomiting and poor feeding
- Failure to thrive and weight loss
- Excessive thirst and urination
- Constipation and abdominal discomfort
- Developmental delays and muscle weakness
- Irritability and lethargy
Laboratory Findings:
- Elevated serum calcium levels
- Increased 1,25-dihydroxyvitamin D concentrations
- Normal or low parathyroid hormone levels
- Evidence of nephrocalcinosis on ultrasound
Family History Indicators:
- Previous siblings with similar symptoms
- Parental consanguinity
- Family history of calcium metabolism disorders
- Unexplained infant deaths in the family
Benefits of CYP24A1 Genetic Testing
Undergoing the CYP24A1 Gene Hypercalcemia Infantile Type NGS Genetic DNA Test offers numerous advantages for patients and families:
- Definitive Diagnosis: Provides conclusive evidence of genetic causation, eliminating diagnostic uncertainty
- Early Intervention: Enables prompt implementation of dietary restrictions and medical management
- Family Planning Guidance: Informs recurrence risks and supports reproductive decision-making
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic findings
- Prevention of Complications: Helps prevent serious long-term consequences like kidney damage
- Genetic Counseling Support: Includes comprehensive counseling to understand inheritance patterns
Understanding Your Test Results
Interpreting CYP24A1 genetic test results requires careful consideration by qualified genetics professionals. Our team provides comprehensive result interpretation along with your report:
Possible Result Interpretations:
- Positive Result: Identification of pathogenic variants confirms diagnosis of CYP24A1-related hypercalcemia
- Negative Result: No mutations detected, suggesting other causes for hypercalcemia should be investigated
- Variant of Uncertain Significance: Identification of genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identification of single mutation in asymptomatic individuals indicating carrier status
All positive results include detailed explanations of the specific mutation, its functional consequences, and implications for treatment and family members. Our genetic counselors are available to discuss results and provide ongoing support for management decisions.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CYP24A1 Gene Hypercalcemia Infantile Type 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 | General Physician, Genetics |
| Disease Category | Metabolic Disorders |
Pre-Test Requirements and Preparation
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with hypercalcemia symptoms
- Recent laboratory results including calcium and vitamin D levels
Our genetic counseling team works closely with families to gather essential information that enhances test interpretation and provides context for genetic findings. This comprehensive approach ensures that test results are meaningful and actionable for clinical management.
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas. Our network includes specialized collection centers in:
- New York City and surrounding tri-state area
- Los Angeles and Southern California region
- Chicago and Illinois metropolitan area
- Houston and Texas Gulf Coast
- Phoenix and Arizona valley
- Philadelphia and Delaware Valley
- All other major US cities and regions
For patients in remote areas, we offer convenient at-home collection kits with detailed instructions and overnight shipping to our central laboratory facility.
Take Action Today
Don’t let diagnostic uncertainty delay appropriate care for your infant or child. Early detection of CYP24A1-related hypercalcemia can prevent serious complications and guide effective management strategies. Our team of genetic specialists is ready to support 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 arrange testing. Our knowledgeable staff will answer your questions, explain the process, and help you take the first step toward definitive diagnosis and personalized treatment.
With our discounted pricing of $500 USD and comprehensive support services, there’s no reason to delay this potentially life-changing genetic testing. Contact us now to book your CYP24A1 Gene Hypercalcemia Infantile Type NGS Genetic DNA Test and gain the clarity you need for your child’s health journey.
