SUMF1 Gene Sulfatase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Screening for Multiple Sulfatase Deficiency
The SUMF1 Gene Sulfatase Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the SUMF1 gene, which plays a critical role in sulfatase enzyme activation. Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disorder characterized by the impaired function of multiple sulfatase enzymes, leading to progressive neurological deterioration and multisystem involvement. This advanced genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the SUMF1 gene, enabling accurate diagnosis and informed medical decision-making.
What This Test Measures and Detects
The SUMF1 Gene Sulfatase Deficiency NGS Genetic DNA Test specifically targets and analyzes the SUMF1 (sulfatase modifying factor 1) gene, which encodes the formylglycine-generating enzyme (FGE). This enzyme is essential for the post-translational modification and activation of all sulfatase enzymes in the human body. The test detects:
- Point mutations, deletions, and insertions in the SUMF1 gene
- Compound heterozygous or homozygous mutations
- Novel genetic variants affecting sulfatase enzyme function
- Genetic markers associated with disease severity and progression
- Inheritance patterns for family planning purposes
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of multiple sulfatase deficiency or related metabolic disorders:
- Infants and children with developmental regression or delayed milestones
- Patients exhibiting coarse facial features and skeletal abnormalities
- Individuals with hepatosplenomegaly (enlarged liver and spleen)
- Those experiencing progressive neurological deterioration
- Patients with hearing loss, vision problems, or skin abnormalities
- Individuals with a family history of sulfatase deficiency disorders
- Couples planning pregnancy with known family history of metabolic disorders
Key Benefits of SUMF1 Genetic Testing
Undergoing the SUMF1 Gene Sulfatase Deficiency NGS Genetic DNA Test offers numerous advantages for patients and families:
- Early Diagnosis: Enables prompt intervention and management strategies
- Accurate Prognosis: Provides insights into disease progression and expected outcomes
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Care: Facilitates tailored treatment approaches based on genetic findings
- Differential Diagnosis: Helps distinguish MSD from other lysosomal storage disorders
- Research Contribution: Contributes to ongoing scientific understanding of rare metabolic diseases
Understanding Your Test Results
Your SUMF1 genetic test results will be carefully interpreted by our team of genetic specialists and metabolic disease experts:
- Positive Result: Identification of pathogenic mutations confirms diagnosis of multiple sulfatase deficiency and guides appropriate medical management
- Negative Result: No detected mutations in the SUMF1 gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of a mutated gene with implications for family members
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical care and family planning.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SUMF1 Gene Sulfatase Deficiency 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 | Metabolic Genetics |
Pre-Test Requirements
Before undergoing the SUMF1 Gene Sulfatase Deficiency NGS Genetic DNA Test, patients should complete the following:
- Provide comprehensive clinical history including symptoms and developmental timeline
- Participate in genetic counseling session to discuss testing implications
- Complete family pedigree chart documenting affected family members
- Review informed consent documents outlining test benefits and limitations
Nationwide Accessibility
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 metabolic specialists ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about metabolic disorders impact your family’s future. The SUMF1 Gene Sulfatase Deficiency NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and comprehensive family planning. Our team of genetic experts is ready to guide you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your genetic health with confidence and clarity.
