MANBA Gene Mannosidosis Beta NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The MANBA Gene Mannosidosis Beta NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced screening utilizes Next-Generation Sequencing technology to detect mutations in the MANBA gene, which encodes the enzyme beta-mannosidase. Deficiencies in this enzyme lead to beta-mannosidosis, a rare lysosomal storage disorder characterized by the abnormal accumulation of complex sugar molecules within cells.
What Does This Test Measure?
Our comprehensive NGS genetic test specifically targets the MANBA gene located on chromosome 4, analyzing its complete coding sequence and critical regulatory regions. The test detects:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the MANBA gene
- Splice site mutations that disrupt proper protein function
- Compound heterozygous mutations in autosomal recessive inheritance patterns
Who Should Consider This Test?
This genetic screening is recommended for individuals presenting with:
- Unexplained developmental delays in childhood
- Progressive intellectual disability or learning difficulties
- Hearing impairment or recurrent ear infections
- Coarse facial features or skeletal abnormalities
- Family history of metabolic disorders or consanguineous parents
- Unexplained neurological symptoms including seizures or movement disorders
- Previous abnormal biochemical testing suggesting lysosomal storage disease
Clinical Benefits of Early Detection
Early diagnosis through genetic testing provides numerous advantages:
- Enables timely intervention and management strategies
- Facilitates appropriate genetic counseling for family planning
- Helps guide symptomatic treatment and supportive care
- Provides clarity for unexplained medical symptoms
- Allows for carrier testing in family members
- Supports enrollment in clinical trials and research studies
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming beta-mannosidosis diagnosis, enabling targeted management
- Negative Result: No disease-causing variants detected, though clinical correlation remains important
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| MANBA Gene Mannosidosis Beta NGS Genetic DNA Test – Discount Price | $500 |
| MANBA Gene Mannosidosis Beta NGS Genetic DNA Test – Regular Price | $700 |
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 cities. Our network of certified genetic testing facilities ensures accessibility and consistent quality standards nationwide.
Schedule Your Genetic Screening Today
Take the first step toward understanding your genetic health. Our experienced genetic counselors and healthcare professionals are ready to guide you through the testing process and help interpret your results. Contact us today to schedule your MANBA Gene Mannosidosis Beta NGS Genetic DNA Test and gain valuable insights into your metabolic health.
Call or WhatsApp: +1(267) 388-9828 to book your appointment or learn more about our comprehensive genetic testing services.
