Heme Single Gene by NGS

This assay is intented to detect single gene mutations associated with hematologic disorders. Purified genomic DNA is enzymatically sheared and targeted sequences are isolated by hybrid capture probes and sequenced by using an Illumina NGS platform.

This assay will not detect variants if present in only a small proportion of cells in the sample. This assay is not intended for post-treatment disease monitoring nor comprehesive germline evaluation and is not validated to detect all classes of genomic alterations, such as large structural events including fusions and copy alterations.

If indicated, panel-based testing can be performed for myeloid-focused genes (HCAPMY) or lymphoid-focused genes (HCAPL), or both myeloid and lymphoid-panels can be ordered together (HCAPA).

SNV
Limit of Detection: 3%
Limit of Quantification: 4%
Precision near LOD (CV): 20%
Accuracy: 100% of expected variants

INDELS
Limit of Detection: 3%
Limit of Quantification: Qualitative Only
Precision near LOD (CV): 20%
Accuracy: 98% of expected insertions/deletions

Hematopathology test request form can be found at Request Form

Preferred:
Blood: 6mL in Lavender Top (EDTA)

Bone Marrow: 1-2mL in Lavender Top (EDTA)

Tissue, Fluids or Sorted cells: Sterile container in RPMI

Formalin-fixed paraffin embedded tissue (FFPE/PET) block

Slides: 10 unstained

Accepted:
Green Tops (Heparin), while green tops are accepted for testing, there is documentation that heparin can interfere with some PCR assays.

Extracted DNA from CLIA certified laboratory.

Formalin-fixed paraffin embedded tissue (FFPE/PET)

Tissue from curls cut from FFPE/PET blocks or stained cover-slipped slides

Unacceptable:
Specimens received beyond stability limit.
Specimens with low volume or inadequate WBC
Decalcified or unacceptable fixatives

Send specimens to Hematopathology – Molecular department for processing.
The stability limit for Blood and Bone Marrow is 7 days, samples beyond this limit will be rejected.

Blood and BMA must arrive in lab by 7am and tissue by 12pm Friday to be included on Monday run.