ALPL Gene Hypophosphatasia Infantile NGS Genetic DNA Test
Comprehensive Genetic Testing for Infantile Bone Disorders
The ALPL Gene Hypophosphatasia Infantile NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, offering unparalleled precision in identifying the underlying genetic causes of infantile hypophosphatasia. This rare metabolic bone disorder affects approximately 1 in 100,000 live births and can lead to severe complications if not properly diagnosed and managed.
What This Advanced Genetic Test Measures
Our state-of-the-art Next Generation Sequencing (NGS) technology comprehensively analyzes the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). This enzyme plays a critical role in bone mineralization and phosphate metabolism. The test detects:
- Point mutations, insertions, and deletions in the ALPL gene
- Compound heterozygous and homozygous mutations
- Novel genetic variants affecting enzyme function
- Inheritance patterns for family risk assessment
Who Should Consider This Genetic Screening?
This test is particularly recommended for infants presenting with:
- Rachitic chest deformity and respiratory complications
- Failure to thrive and poor weight gain
- Skeletal abnormalities including bowed legs and enlarged wrists
- Premature tooth loss or dental abnormalities
- Hypercalcemia and hypercalciuria
- Family history of metabolic bone disorders
- Unexplained fractures or bone pain
Significant Benefits of Early Genetic Testing
Early diagnosis through our ALPL gene testing provides numerous advantages:
- Precise Diagnosis: Differentiate hypophosphatasia from other bone disorders
- Treatment Guidance: Inform enzyme replacement therapy decisions
- Prognostic Information: Understand disease severity and progression
- Family Planning: Assess recurrence risks for future pregnancies
- Preventive Care: Implement appropriate monitoring and interventions
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
- Positive Result: Confirms diagnosis of infantile hypophosphatasia and guides treatment planning
- Negative Result: Suggests alternative diagnoses should be explored
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals at risk of passing the condition to offspring
Test Pricing and Availability
| 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
Nationwide Testing Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures that advanced genetic testing is accessible to families nationwide.
Pre-Test Preparation and Genetic Counseling
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed family pedigree chart
- Discussion of potential outcomes and implications
Take Action for Your Child’s Health Today
Don’t wait to get answers about your infant’s health concerns. Our expert team of genetic specialists is ready to provide the comprehensive testing and support your family needs. Early diagnosis can significantly impact treatment outcomes and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the ALPL Gene Hypophosphatasia Infantile NGS Genetic DNA Test. Our compassionate team will guide you through every step of the process, from initial consultation to result interpretation and beyond.
