SMCHD1 Mutation Analysis with Interpretation
Label Mnemonic: SMCHD1
Epic Lab Code: LAB8079
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Whole Blood
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum:
Adult Minimum: 3 mL whole blood in lavender top tube (EDTA)
Children Minimum: 3 mL whole blood in lavender top tube (EDTA)

Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing.

Testing requires a dedicated collection tube.
Delivery Instructions:
Deliver immediately or refrigerate if held overnight. Holding or shipping samples over weekends or holidays is not recommended. DO NOT FREEZE.
Testing Schedule:
Weekly
Turn Around Time:
21 days
Methodology:
Massively parallel Next Generation DNA sequencing by synthesis, semiconductor technology, Ion Personal Genomics Machine.
CPT Code:
81479