DMPK Detection of Abnormal Alleles with Interpretation
Label Mnemonic: MYD
Epic Lab Code: LAB2480
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:
Adults - 3 mL whole blood in lavender top tube (EDTA) Children - 2 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:
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: <35 CTG repeats Indeterminate: 35-49 CTG repeats Carrier: 50-99 CTG repeats Full mutation (affected): >99 CTG repeats
Methodology:
Polymerase Chain Reaction (PCR) and Southern Blot
CPT Code:
81404