Sphingolipidosis Panel 2 Test: Comprehensive Genetic Screening for Metabolic Disorders
Understanding Sphingolipidosis Panel 2 Testing
The Sphingolipidosis Panel 2 Test represents a cutting-edge diagnostic approach for identifying inherited metabolic disorders affecting lipid metabolism. This specialized genetic screening focuses on detecting enzyme deficiencies that lead to the accumulation of sphingolipids in various tissues and organs. As part of our comprehensive genetic testing services, this panel provides crucial insights into rare but serious metabolic conditions that can significantly impact quality of life if left undiagnosed.
What This Test Measures and Detects
This advanced diagnostic panel specifically targets two critical metabolic disorders:
- Gaucher Disease: Measures glucocerebrosidase enzyme activity to identify deficiencies that cause lipid accumulation in spleen, liver, and bone marrow
- Niemann-Pick Disease: Evaluates acid sphingomyelinase enzyme levels to detect abnormalities in lipid storage and cellular function
Who Should Consider Sphingolipidosis Panel 2 Testing
This test is particularly recommended for individuals presenting with:
- Unexplained neurological symptoms or developmental delays
- Organ enlargement (hepatosplenomegaly) without clear cause
- Family history of metabolic disorders or unexplained infant mortality
- Progressive bone pain or skeletal abnormalities
- Eye movement disorders or cherry-red spots in retinal examination
- Developmental regression in early childhood
- Respiratory complications with unknown etiology
Clinical Indications and Symptoms
Patients experiencing combinations of these symptoms should consider genetic screening:
- Progressive neurological deterioration
- Abnormal lipid storage patterns
- Growth and developmental concerns
- Unexplained organ dysfunction
- Metabolic abnormalities in blood tests
Benefits of Sphingolipidosis Panel 2 Testing
Early detection through this comprehensive panel offers numerous advantages:
- Early Intervention: Enables timely treatment before irreversible damage occurs
- Accurate Diagnosis: Provides definitive answers for complex symptom presentations
- Family Planning: Offers genetic counseling opportunities for at-risk families
- Treatment Guidance: Informs appropriate therapeutic approaches and management strategies
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Your Sphingolipidosis Panel 2 results will provide clear insights into your metabolic health:
- Normal Results: Indicate typical enzyme activity levels, ruling out the tested disorders
- Abnormal Results: Suggest enzyme deficiencies requiring further evaluation and specialist consultation
- Borderline Findings: May indicate carrier status or mild forms requiring monitoring
All results include detailed interpretation by our genetic specialists, with recommendations for next steps and appropriate follow-up care.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Sphingolipidosis Panel 2 Test | $138 USD | $226 USD |
Convenient Nationwide Access
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services wherever you are located.
Take Control of Your Genetic Health Today
Don’t wait to get answers about potential metabolic disorders. Our Sphingolipidosis Panel 2 Test provides comprehensive screening with rapid 4-day turnaround time. With samples processed daily by 4 PM, you can expect prompt results and expert interpretation.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Early detection through genetic screening can make a significant difference in managing metabolic conditions effectively.
Sample Requirements and Processing
For accurate testing, please provide:
- 10 mL (7.5 mL minimum) whole blood collected in 3 Lavender Top (EDTA) or Green Top (Sodium Heparin) tubes
- Samples must be shipped refrigerated within 48 hours – DO NOT FREEZE
- Complete clinical history must accompany each sample for proper interpretation
Our specialized enzyme assay methodology ensures precise measurement of metabolic enzyme activities, providing reliable results for informed healthcare decisions.
