ASAH1 Gene Farber Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Metabolic Disorders
The ASAH1 Gene Farber Disease NGS Genetic DNA Test represents a breakthrough in diagnostic precision for rare inherited metabolic conditions. Farber disease, also known as Farber lipogranulomatosis, is an extremely rare autosomal recessive disorder caused by mutations in the ASAH1 gene. This gene encodes the enzyme acid ceramidase, which plays a critical role in lipid metabolism by breaking down ceramide into sphingosine and fatty acids.
When ASAH1 gene mutations occur, they disrupt normal ceramide metabolism, leading to abnormal accumulation of ceramide in various tissues throughout the body. This progressive accumulation causes the characteristic symptoms of Farber disease, including painful joint deformities, subcutaneous nodules, and progressive neurological deterioration. Early and accurate diagnosis through our advanced NGS genetic testing is essential for proper management and treatment planning.
What This Test Measures and Detects
Our comprehensive ASAH1 Gene Farber Disease NGS Genetic DNA Test utilizes cutting-edge next-generation sequencing technology to analyze the entire coding region of the ASAH1 gene. This sophisticated approach enables us to:
- Identify specific pathogenic mutations in the ASAH1 gene
- Detect both known and novel genetic variants associated with Farber disease
- Provide detailed information about mutation types (missense, nonsense, frameshift, etc.)
- Assess the impact of identified variants on acid ceramidase enzyme function
- Offer carrier status determination for at-risk family members
The test examines all 14 exons of the ASAH1 gene, ensuring comprehensive coverage of potential mutation sites. Our advanced bioinformatics pipeline analyzes sequencing data to provide clinically relevant interpretations of genetic findings.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of Farber disease or those with relevant family history. Key indications include:
- Clinical Symptoms: Individuals showing characteristic signs such as painful swollen joints, subcutaneous nodules (particularly over joints and pressure points), hoarse voice or weak cry, and developmental delays
- Family History: Those with known family members diagnosed with Farber disease or unexplained infant/childhood deaths with similar symptoms
- Diagnostic Confirmation: Patients with suspected Farber disease based on clinical presentation and biochemical findings
- Carrier Testing: Family members of affected individuals seeking carrier status information
- Prenatal Planning: Couples with family history of Farber disease considering pregnancy
Significant Benefits of ASAH1 Genetic Testing
Undergoing the ASAH1 Gene Farber Disease NGS Genetic DNA Test provides numerous advantages for patients and families:
- Early and Accurate Diagnosis: Enables precise identification of Farber disease, allowing for timely intervention and management strategies
- Genetic Counseling Guidance: Provides essential information for genetic counselors to discuss inheritance patterns, recurrence risks, and family planning options
- Treatment Planning: Facilitates development of personalized management plans, including potential enzyme replacement therapies and supportive care
- Family Risk Assessment: Allows for carrier testing and prenatal diagnosis in subsequent pregnancies
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity for families dealing with complex symptoms
- Research Contribution: Contributes to ongoing research and understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic testing report provides detailed interpretation of your results with clinical context:
- Positive Result: Identification of pathogenic mutations in both copies of the ASAH1 gene confirms the diagnosis of Farber disease. This result enables targeted management and family counseling.
- Carrier Status: Detection of a single pathogenic mutation indicates carrier status, with important implications for family planning and genetic counseling.
- Negative Result: No pathogenic mutations detected significantly reduces the likelihood of Farber disease, though clinical correlation remains essential.
- Variant of Uncertain Significance (VUS): Some genetic changes may have unknown clinical significance, requiring additional family studies and clinical correlation.
All results are accompanied by detailed explanations and recommendations for next steps. Our genetic counselors are available to help you understand your results and their implications for your health and family planning.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Test Name | ASAH1 Gene Farber Disease NGS Genetic DNA Test |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-test Requirements: Clinical History and Genetic Counseling Session
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as 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 you receive comprehensive support throughout the testing process.
Take the Next Step Toward Clarity
If you or your family members are experiencing symptoms suggestive of Farber disease or have concerns about genetic risk factors, don’t wait to seek answers. Our ASAH1 Gene Farber Disease NGS Genetic DNA Test provides the definitive genetic information needed for accurate diagnosis and informed healthcare decisions.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our dedicated team is ready to guide you through the testing process, answer your questions, and provide the support you need during this important healthcare journey.
Early detection through advanced genetic testing can make a significant difference in managing rare metabolic disorders. Take control of your health and gain the clarity you deserve with our comprehensive ASAH1 genetic testing services.
