ABHD1 Gene Lung Alpha-Beta Hydrolase Deficiency Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Lung Disorders
The ABHD1 Gene Lung Alpha-Beta Hydrolase Deficiency Type 1 NGS Genetic DNA Test represents a significant advancement in the diagnosis and management of rare metabolic disorders affecting respiratory function. This specialized genetic test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the ABHD1 gene, which plays a crucial role in lipid metabolism and lung health.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the ABHD1 gene, which encodes for alpha-beta hydrolase domain-containing protein 1. The test identifies:
- Point mutations and single nucleotide variants in the ABHD1 gene
- Insertions and deletions affecting gene function
- Copy number variations that may impact enzyme activity
- Genetic markers associated with impaired lipid metabolism
- Variants linked to respiratory complications and lung function abnormalities
Who Should Consider This Test
This genetic test is particularly recommended for individuals experiencing:
- Unexplained respiratory distress or breathing difficulties
- Chronic lung inflammation without clear cause
- Family history of metabolic disorders or genetic lung conditions
- Recurrent pulmonary infections or respiratory complications
- Suspected inherited metabolic syndromes affecting lung function
- Unexplained lipid metabolism abnormalities
- Planning for family with known genetic risk factors
Clinical Importance and Benefits
Early detection through genetic testing provides numerous clinical advantages:
- Personalized Treatment Planning: Results guide targeted therapeutic interventions specific to the identified genetic variant
- Proactive Management: Enables early intervention before significant lung damage occurs
- Family Risk Assessment: Identifies at-risk family members for preventive screening
- Reproductive Planning: Provides crucial information for family planning decisions
- Accurate Diagnosis: Eliminates diagnostic uncertainty and prevents unnecessary treatments
- Improved Quality of Life: Early intervention can significantly improve long-term respiratory health outcomes
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical professionals:
- Positive Result: Indicates the presence of a pathogenic variant in the ABHD1 gene, confirming the diagnosis of alpha-beta hydrolase deficiency type 1
- Negative Result: Suggests no disease-causing mutations were detected in the ABHD1 gene
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research correlation
- Carrier Status: Identifies individuals who carry one copy of the mutated gene but may not show symptoms
All positive results include comprehensive genetic counseling to help you understand the implications and next steps for management and treatment.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| ABHD1 Gene Lung Alpha-Beta Hydrolase Deficiency Type 1 NGS Genetic DNA Test | $500 USD | $700 USD |
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. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history documentation
- Scheduled genetic counseling session
- Family pedigree chart prepared with genetic counselor
- Blood sample collection appointment scheduled
Take Control of Your Genetic Health Today
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our ABHD1 Gene Lung Alpha-Beta Hydrolase Deficiency Type 1 NGS Genetic DNA Test provides the clarity and information necessary for informed healthcare decisions. With results available in 3-4 weeks and comprehensive support throughout the process, you can take proactive steps toward better respiratory and metabolic health.
Ready to schedule your genetic test? Call our dedicated genetic testing specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your respiratory wellness.
