HYAL1 Gene Mucopolysaccharidosis Type 9 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The HYAL1 Gene Mucopolysaccharidosis Type 9 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced testing methodology utilizes cutting-edge Next-Generation Sequencing (NGS) technology to provide definitive diagnosis for Mucopolysaccharidosis Type 9, a rare inherited disorder affecting the body’s ability to break down complex sugar molecules called glycosaminoglycans.
What is Mucopolysaccharidosis Type 9?
Mucopolysaccharidosis Type 9, also known as Natowicz syndrome, is an extremely rare lysosomal storage disease caused by mutations in the HYAL1 gene. This gene provides instructions for producing the enzyme hyaluronidase-1, which is essential for breaking down hyaluronic acid—a major component of connective tissues throughout the body. When this enzyme is deficient or non-functional, hyaluronic acid accumulates in tissues, leading to progressive damage and various clinical manifestations.
What the Test Measures and Detects
Our comprehensive NGS genetic test specifically analyzes the HYAL1 gene located on chromosome 3p21.3 to identify pathogenic variants responsible for Mucopolysaccharidosis Type 9. The test examines:
- Complete coding regions and exon-intron boundaries of the HYAL1 gene
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations (CNVs) affecting gene function
- Regulatory regions that may impact gene expression
- All known disease-causing mutations with 99.9% accuracy
The NGS technology employed in this test provides unparalleled sensitivity and specificity, ensuring comprehensive coverage of the entire HYAL1 gene with deep sequencing to detect even low-level mosaicism.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with the following symptoms or clinical scenarios:
- Children and adults with unexplained joint stiffness and limited range of motion
- Individuals with short stature disproportionate to family patterns
- Patients experiencing developmental delays or learning difficulties
- Those with recurrent joint effusions or soft tissue masses
- Individuals showing mild facial dysmorphism or skeletal abnormalities
- Patients with elevated urinary glycosaminoglycan levels
- Individuals with family history of Mucopolysaccharidosis or similar metabolic disorders
- Couples planning pregnancy with known family history of metabolic conditions
Benefits of Taking the HYAL1 Genetic Test
Early Diagnosis and Intervention
Obtaining a definitive genetic diagnosis through this test provides numerous critical benefits:
- Accurate Diagnosis: Eliminates diagnostic uncertainty and prevents misdiagnosis
- Personalized Treatment: Enables targeted management strategies and appropriate medical care
- Family Planning: Provides essential information for reproductive decision-making
- Prognostic Information: Helps predict disease progression and potential complications
- Clinical Trial Eligibility: Opens opportunities for participation in emerging therapies
- Psychological Relief: Reduces anxiety by providing clear answers about health conditions
- Cost-Effective: Prevents unnecessary medical testing and procedures
Understanding Your Test Results
Interpretation Guidance
Our comprehensive genetic counseling support helps you understand your test results:
- Positive Result: Indicates the presence of pathogenic mutations in the HYAL1 gene, confirming Mucopolysaccharidosis Type 9 diagnosis
- Negative Result: Suggests no disease-causing variants were detected, though clinical correlation is essential
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance is currently unknown
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
All results are accompanied by detailed explanations and recommendations for next steps, including referrals to metabolic specialists and genetic counselors.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | HYAL1 Gene Mucopolysaccharidosis Type 9 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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
To ensure optimal testing outcomes, we recommend:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with Mucopolysaccharidosis Type 9
- Review of previous diagnostic tests and clinical findings
Nationwide Testing Availability
We have conveniently located branches across the United States, serving patients 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 testing facilities ensures accessible, reliable testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our HYAL1 Gene Mucopolysaccharidosis Type 9 NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With our special discounted price of $500 USD, advanced genetic testing is more accessible than ever.
Call us now at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. You can also WhatsApp us for immediate assistance and appointment scheduling.
Take the first step toward definitive diagnosis and personalized care. Book your HYAL1 genetic test today and gain the peace of mind that comes with comprehensive genetic understanding.
