DMPK Detection of Abnormal Alleles with Interpretation

Label Mnemonic:	MYD
Epic code:	LAB2480
Downtime form:	Doctor/Provider Orders - Pathology Molecular

Commercial Mailout Laboratory
6240-8 RCP
356-8593

Specimen(s):

Whole Blood

Collection Medium:

Pink top tube 6 mL (K2-EDTA)

Minimum:

6 mL whole blood in pink 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, weekends or holidays.

Testing Schedule:

Weekly

Turn Around Time:

21 days

Reference Range:

 5-34 CTG repeats – normal

35-49 CTG repeats – premutation at (low) risk for expansion

50-99 CTG repeats – full penetrance but disease is late adult onset

 ≥100 CTG repeats – full mutation with disease onset in 2nd to 4th

                    decade

>1000 CTG repeats – congenital onset

Methodology:

Polymerase Chain Reaction (PCR) and Southern Blot

CPT Code:

81234 (PCR), 81239 (Southern Blot)