Alnylam Act® Primary Hyperoxaluria Type 1 Sponsored Testing Program
Use
The Alnylam Act® Primary Hyperoxaluria Type 1 Sponsored Testing Program provides no-charge genetic testing and counseling for individuals suspected of having primary hyperoxaluria or with a family history of the condition. The program aims to identify mutations in genes related to primary hyperoxaluria, which is crucial for accurate diagnosis and management of the condition. By understanding the genetic basis, healthcare providers can make informed decisions regarding patient care.
Special Instructions
The Alnylam Act® PH1 program requires patients to either have a family history of primary hyperoxaluria or present with specific symptoms for eligibility. Specimens can be collected using whole blood, saliva, or OCD-100 buccal swabs. Sample collection kits can be ordered for no-charge testing, and genetic counseling is available through Genome Medical as part of the program.
Limitations
This test is designed and validated following CAP and CLIA regulations; however, it has not been cleared or approved by the FDA. Testing is subject to the quality and type of specimen collected. DNA from saliva and buccal swabs may be contaminated with microbial DNA, which can impact the quality of the test results and may necessitate a second specimen. Genetic counseling is recommended for accurately interpreting the results.
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
1 ml
Container
EDTA (purple top tube) or ACD (yellow top tube)
Storage Instructions
At room temperature or refrigerated, a whole blood specimen is stable for up to 8 days. Include a refrigerated gel pack in the shipping container.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 8 days |