Suggested Custom Slice – Aplastic Anemia (Custom Slice, 2‑150 genes)
Use
This test permits targeted exome sequencing of a custom-selected panel of 2–150 genes associated with aplastic anemia, enabling focused analysis when a comprehensive panel is unavailable or not appropriate; analysis is limited to the genes specified by the provider with no reporting of incidental findings unless those genes are included.
Special Instructions
Provider must submit the custom gene list via the online Slice Tool for review; an approved Slice ID and tracking number will be issued and must accompany the specimen submission.
Limitations
Only genes on the submitted list are analyzed; ACMG secondary findings are not returned unless in the custom list; family members’ samples typically not analyzed unless ordering Slice Xpanded®; other limitations typical of exome sequencing apply such as regions of low coverage and inability to detect certain variant types.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
EDTA (lavender‑top) tube containing ~2–5 ml whole blood
Collection Instructions
Collect 2–5 ml whole blood in EDTA tube; label with patient name and second identifier; refrigerate up to 7 days before shipping; ship ambient (cool pack if hot weather).
Storage Instructions
Refrigerated up to 7 days before shipping.
Causes for Rejection
Frozen, hemolyzed, or clotted specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |