Inozyme ABCC6 Deficiency Genetic Test Program
Use
The Inozyme ABCC6 Deficiency Genetic Test Program is designed for patients with a previous diagnosis of Pseudoxanthoma Elasticum (PXE) or with a clinical suspicion of PXE. Genetic testing for ABCC6 deficiency provides insights into the potential diagnosis and management of PXE and related conditions. The test aims to identify pathogenic variants in the ABCC6 gene, which are associated with arterial calcification disorders. This is particularly intended for patients meeting specific clinical criteria.
Special Instructions
This is a no-charge sponsored genetic testing program for eligible patients, which requires meeting one of the pre-defined criteria. Ordering involves placing an order through the mentioned channels and receiving sample collection kits as part of the process. Detailed clinical notes or a clinical data checklist with pedigree information is encouraged to improve the quality of the variant interpretation.
Limitations
The test is not cleared or approved by the US Food and Drug Administration, and its performance characteristics have been validated by PreventionGenetics. Since it is performed under the regulations of CAP and CLIA, clinical accuracy is ensured, although the limitations inherent to genetic tests apply, including potential false negatives or uncertainties regarding variant interpretation without comprehensive clinical context.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 ml - 5 ml
Minimum Volume
Not provided
Container
EDTA (purple top tube) or ACD (yellow top tube)
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3-4 weeks |