MAN2B1 Gene Alpha-Mannosidosis NGS Genetic DNA Test
Comprehensive Genetic Screening for Rare Metabolic Disorders
The MAN2B1 Gene Alpha-Mannosidosis NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare inherited metabolic conditions. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the MAN2B1 gene, which encodes the enzyme alpha-mannosidase. When this enzyme is deficient, complex sugar molecules called oligosaccharides accumulate in lysosomes, leading to progressive cellular damage and the characteristic symptoms of alpha-mannosidosis.
What This Test Measures and Detects
Our comprehensive NGS genetic analysis specifically targets the MAN2B1 gene located on chromosome 19, examining all coding regions and splice sites for pathogenic variants. The test detects:
- Missense, nonsense, and frameshift mutations in the MAN2B1 gene
- Small deletions and insertions affecting enzyme function
- Splice site variants that disrupt proper gene expression
- Compound heterozygous mutations in affected individuals
- Carrier status identification in asymptomatic family members
Who Should Consider This Genetic Screening
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of alpha-mannosidosis, including:
- Infants and children with developmental delays and intellectual disability
- Patients exhibiting coarse facial features and skeletal abnormalities
- Individuals with recurrent infections and immune system deficiencies
- Those experiencing progressive hearing loss and speech difficulties
- Patients with hepatosplenomegaly and connective tissue disorders
- Family members of diagnosed individuals seeking carrier status information
- Couples with family history of lysosomal storage disorders planning pregnancy
Significant Benefits of Early Genetic Detection
Undergoing the MAN2B1 Gene Alpha-Mannosidosis NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of alpha-mannosidosis, eliminating diagnostic uncertainty
- Early Intervention: Enables prompt initiation of appropriate management strategies and supportive care
- Family Planning Guidance: Informs reproductive decisions through precise carrier risk assessment
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic mutations
- Prognostic Information: Helps predict disease progression and potential complications
- Clinical Trial Eligibility: Opens access to emerging treatments and research opportunities
Understanding Your Genetic Test Results
Our comprehensive genetic counseling support helps you interpret your MAN2B1 gene analysis results:
- Positive Result: Identification of pathogenic mutations confirms alpha-mannosidosis diagnosis, enabling immediate medical management and family screening
- Negative Result: No disease-causing variants detected significantly reduces likelihood of alpha-mannosidosis, though clinical correlation remains essential
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact require ongoing monitoring and family studies
- Carrier Status: Identification of single mutation carriers informs reproductive risk assessment and family planning decisions
Test Pricing and Availability
| Test Description | Regular Price | Discount Price |
|---|---|---|
| MAN2B1 Gene Alpha-Mannosidosis NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with specialized genetic centers in New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and all major metropolitan areas. Our network ensures convenient access to advanced genetic testing regardless of your location.
Take Action for Your Genetic Health
Don’t let uncertainty about potential genetic disorders impact your health decisions. Our MAN2B1 Gene Alpha-Mannosidosis NGS Genetic DNA Test provides the clarity needed for informed medical management and family planning. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, accessing this crucial genetic information has never been more convenient.
Schedule your genetic consultation today by calling our dedicated genetics hotline at +1(267) 388-9828 or book your appointment online through our secure patient portal. Take the first step toward genetic clarity and personalized healthcare management.
