SLC29A3 Gene Histiocytosis-Lymphadenopathy Plus Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Multisystem Disorders
The SLC29A3 Gene Histiocytosis-Lymphadenopathy Plus Syndrome NGS Genetic DNA Test represents a breakthrough in diagnostic precision for patients presenting with complex multisystem symptoms. This advanced genetic test utilizes next-generation sequencing technology to identify mutations in the SLC29A3 gene, which plays a critical role in cellular nucleoside transport and immune system regulation.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the SLC29A3 gene, which encodes the equilibrative nucleoside transporter 3 (ENT3) protein. Mutations in this gene disrupt normal cellular function and are directly linked to:
- Histiocytosis-lymphadenopathy plus syndrome (HLPS)
- Familial Rosai-Dorfman disease
- H syndrome with associated bone and skin manifestations
- Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome
- Multisystem inflammatory disorders affecting bones, skin, and immune function
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with the following symptoms or clinical findings:
- Unexplained bone lesions or skeletal abnormalities
- Persistent lymphadenopathy (swollen lymph nodes)
- Recurrent skin rashes, hyperpigmentation, or hypertrichosis
- Hearing loss or sensorineural impairment
- Short stature or growth abnormalities
- Recurrent infections suggesting immune dysfunction
- Cardiac abnormalities or heart murmurs
- Diabetes mellitus with unusual presentation
- Family history of similar multisystem disorders
Clinical Benefits of Genetic Testing
Undergoing the SLC29A3 genetic test provides numerous clinical advantages:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and provides clear genetic confirmation
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of potential complications
- Comprehensive Care: Guides multidisciplinary treatment involving dermatology, immunology, and orthopedics
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical specialists:
- Positive Result: Indicates the presence of pathogenic mutations in the SLC29A3 gene, confirming the diagnosis and guiding specific treatment protocols
- Negative Result: Suggests that SLC29A3 mutations are not responsible for the clinical symptoms, directing further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation and possibly family studies
- Carrier Status: Determines if an individual carries one copy of a mutated gene, important for family planning considerations
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC29A3 Gene Histiocytosis-Lymphadenopathy Plus Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 |
Nationwide Accessibility and Convenience
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 comprehensive network ensures that advanced genetic testing is accessible to patients nationwide.
Take the Next Step Toward Clarity
Don’t let diagnostic uncertainty delay your path to proper treatment. Our experienced genetic counselors and medical specialists are ready to guide you through the testing process and help interpret your results. Contact us today to schedule your genetic counseling session and arrange for testing.
Call or WhatsApp: +1(267) 388-9828
Book your SLC29A3 genetic test today and take the first step toward definitive diagnosis and personalized treatment planning. Our team is committed to providing exceptional care and comprehensive support throughout your genetic testing journey.
