SLCO1B3 Gene Hyperbilirubinemia Rotor Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Liver Disorders
The SLCO1B3 Gene Hyperbilirubinemia Rotor Type NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for liver health. This specialized test utilizes next-generation sequencing technology to identify mutations in the SLCO1B3 gene, which plays a crucial role in bilirubin transport and metabolism. Rotor syndrome, the condition detected by this test, is a rare autosomal recessive disorder characterized by chronic, conjugated hyperbilirubinemia without evidence of hemolysis or liver damage.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based analysis specifically targets the SLCO1B3 gene, which encodes the organic anion transporting polypeptide 1B3. This protein is essential for the hepatic uptake of bilirubin and other organic anions from the blood. The test detects:
- Point mutations and single nucleotide variants in the SLCO1B3 gene
- Insertions and deletions affecting gene function
- Compound heterozygous mutations causing Rotor syndrome
- Genetic variants that impair bilirubin-glucuronide transport
- Mutations affecting organic anion transporter function
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Unexplained chronic jaundice or elevated bilirubin levels
- Family history of hereditary hyperbilirubinemia
- Persistent conjugated hyperbilirubinemia without liver damage
- Diagnostic uncertainty between Rotor syndrome and Dubin-Johnson syndrome
- Children or adults with intermittent jaundice episodes
- Individuals with normal liver function tests but elevated bilirubin
- Patients requiring definitive genetic diagnosis for treatment planning
Significant Benefits of Genetic Testing
Undergoing the SLCO1B3 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive genetic confirmation of Rotor syndrome
- Family Planning: Enables informed reproductive decisions for carriers
- Treatment Guidance: Helps avoid unnecessary medical interventions
- Prognostic Information: Offers insights into long-term health outcomes
- Differential Diagnosis: Distinguishes between similar liver disorders
- Peace of Mind: Reduces diagnostic uncertainty and anxiety
- Personalized Care: Facilitates tailored medical management strategies
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Positive Result: Indicates pathogenic mutations in both SLCO1B3 alleles, confirming Rotor syndrome diagnosis
- Carrier Status: Identifies individuals with one mutated allele who may pass the condition to offspring
- Negative Result: Suggests alternative causes for hyperbilirubinemia requiring further investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
All results include detailed interpretation by board-certified genetic specialists and recommendations for appropriate follow-up care and monitoring.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| SLCO1B3 Gene Hyperbilirubinemia Rotor Type NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Nationwide Testing 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, and San Jose. Our network of certified collection centers ensures easy access to this advanced genetic testing service.
Take Control of Your Liver Health Today
Don’t let diagnostic uncertainty compromise your health management. Our SLCO1B3 genetic test provides the clarity needed for proper diagnosis and treatment of hereditary hyperbilirubinemia. With results delivered within 3-4 weeks and comprehensive genetic counseling included, you’ll receive the expert guidance necessary for informed healthcare decisions.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and personalized care for your liver health concerns.
