LARGE Full Gene Sequencing with Interpretation
Label Mnemonic: LARGE
Epic Lab Code: LAB7509
Downtime Form: A-1a Miscellaneous Request
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Peripheral Blood, Muscle Biopsies, Cell Culture
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum:
Adult Minimum: 3 mL blood in lavender top (EDTA) tube.
Children Minimum: 2 mL blood in lavender top (EDTA) tube.

Optional specimen type: Formalin Fixed paraffin embedded tissue; Fresh Frozen tissue.

Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing.
Rejection Criteria:
Testing requires a dedicated collection tube.
Delivery Instructions:
Room temperature for up to 24 hours, then refrigerate the whole blood if it is necessary to be held overnight, or weekends, or holidays.
Testing Schedule:
Weekly
Turn Around Time:
21 days
Reference Range:
Normal
Methodology:
PCR followed by sequence analysis of the coding regions of the LARGE gene.
CPT Code:
81479