Alnylam Act® Acute Hepatic Porphyria Sponsored Testing Program
Use
The Alnylam Act® Acute Hepatic Porphyria Sponsored Testing Program offers no-charge genetic testing for patients who may have acute hepatic porphyria. It is designed to help healthcare providers diagnose and manage hereditary conditions that predispose individuals to acute attacks. This program aims to support clinical diagnosis through genetic confirmation for optimal patient care, especially for those with a family history of the disease, unexplained abdominal pain, or elevated urinary biomarkers such as porphobilinogen or aminolevulinic acid.
Special Instructions
Not provided.
Limitations
The test is not FDA approved and is not intended for use in diagnostic procedures in New York State without additional documentation. It may not detect all variants associated with acute hepatic porphyria, and false negatives are possible. Environmental and biological factors may influence test accuracy, so results should be interpreted in the context of clinical symptoms and family history.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
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, stable for up to 8 days. Include a refrigerated gel pack for shipping.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 8 days |