PLEKHM1 Gene Osteopetrosis Autosomal Recessive Type 6 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Bone Disorders
The PLEKHM1 Gene Osteopetrosis Autosomal Recessive Type 6 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare inherited bone disorders. This advanced genetic screening utilizes state-of-the-art Next-Generation Sequencing technology to identify mutations in the PLEKHM1 gene, which plays a critical role in bone remodeling and osteoclast function. Osteopetrosis, commonly known as “marble bone disease,” is characterized by abnormally dense bones that can lead to serious health complications when left undiagnosed.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the PLEKHM1 gene to identify pathogenic variants responsible for autosomal recessive osteopetrosis type 6. The test examines:
- Complete coding regions of the PLEKHM1 gene
- Exon-intron boundaries for splice site mutations
- Copy number variations and structural variants
- Point mutations, insertions, and deletions
- Known pathogenic variants associated with osteopetrosis
The PLEKHM1 gene encodes a protein essential for osteoclast function – the cells responsible for bone resorption. Mutations in this gene disrupt normal bone remodeling, leading to the characteristic increased bone density seen in osteopetrosis patients.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained increased bone density on radiographic imaging
- Recurrent fractures with minimal trauma
- Anemia or pancytopenia of unknown origin
- Vision or hearing problems related to cranial nerve compression
- Family history of osteopetrosis or consanguineous parents
- Delayed tooth eruption or dental abnormalities
- Hepatosplenomegaly without clear cause
- Growth retardation in children
Significant Benefits of Genetic Testing
Undergoing the PLEKHM1 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out autosomal recessive osteopetrosis type 6 with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management to prevent complications
- Disease Monitoring: Establishes baseline for tracking disease progression
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your test results:
- Positive Result: Indicates the presence of pathogenic mutations in the PLEKHM1 gene, confirming diagnosis of autosomal recessive osteopetrosis type 6
- Negative Result: Suggests that PLEKHM1 mutations are not detected, though other genetic causes of osteopetrosis may need consideration
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations for next steps in management and family screening.
Test Pricing Information
| Test Name | Regular Price | Discount Price |
|---|---|---|
| PLEKHM1 Gene Osteopetrosis Autosomal Recessive Type 6 NGS Genetic DNA Test | $700 USD | $500 USD |
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, and many more. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your bone health or family genetic risks hold you back. Our PLEKHM1 Gene Osteopetrosis Autosomal Recessive Type 6 NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With results available in just 3-4 weeks and comprehensive genetic counseling support, you’ll have the information necessary to plan your health journey effectively.
Ready to schedule your genetic test? Call our dedicated genetic counseling team at +1(267) 388-9828 or book your appointment online today. Take the first step toward understanding your genetic health and securing your family’s future.
