ATP8B1 Comprehensive - Sequence & Deletion/Duplication Analysis
Use
The ATP8B1 Comprehensive - Sequence & Deletion/Duplication Analysis is performed to identify pathogenic variants associated with ATP8B1 deficiency. This deficiency can lead to benign recurrent intrahepatic cholestasis type I (BRIC1) or progressive familial intrahepatic cholestasis type I (PFIC1). BRIC1 results in jaundice attacks but lacks chronic liver damage, while PFIC1, a more severe condition, is marked by cholestasis beginning in infancy, potentially leading to cirrhosis and liver failure. Testing aids in genotype-phenotype correlations.
Special Instructions
Testing is indicated for symptomatic patients with family histories of BRIC1 or PFIC1. Collection of the specimen should follow specific logistical guidelines, ensuring sample integrity is maintained from collection to arrival at the lab. Proper shipment conditions are vital to guarantee accurate test results. For patients with specific symptoms or a familial predisposition, early testing can significantly impact treatment approaches and informing relatives of carrier statuses.
Limitations
The analysis detects sequence variations and copy number changes but does not identify inversions or mutations within the promoter or deep intronic regions. The accuracy is dependent on the quality of the samples collected and processed. Interpretive constraints arise from the potential for unrecognized pathogenic variants not detected by standard sequencing methods, especially for regions not covered in the analysis.
Methodology
Sanger
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Fresh)
Volume
5 cubic millimeters
Minimum Volume
5 cubic millimeters
Container
separate sterile container with RPMI media
Collection Instructions
Collect from a central location (e.g., buttock or upper thigh) to enhance cell viability.
Storage Instructions
Ship at ambient temperature (18–25°C/64–77°F). Protect from excessive heat, shipping in a cooled container during summer months.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |