Myotonic Dystrophy 1 (DMPK) genetic testing (repeat expansion)

Alphabetical Test listing

Myotonic Dystrophy 1 (DMPK) genetic testing (repeat expansion)-994

Test name:

Test number:

994

Excellian order number:

LAB994

Abbreviation:

MSO

Alternate names:

DMPK repeat expansion

Useful for:

Type 1 myotonic dystrophy results from a mutation in the DMPK gene known as a trinucleotide repeat expansion. This mutation increases in the size of the repeated CTG segment in the DMPK gene. People with type 1 myotonic dystrophy have from 50 to 5,000 CTG repeats in most cells. The number of repeats may be even greater in certain types of cells, such as muscle cells.

Specimen type:

EDTA whole blood

Collection container:

Lavender (EDTA), 4mL

Volume:

4.0 mL

Minimum volume:

1.0 mL

Collection instructions:

Immediately after collection, mix tube thoroughly by gentle inversion, 8 - 10 times, to prevent clotting

Transport container:

Lavender (EDTA), 4mL

Transport and stability:

Ambient (preferred) - 5 days

Refrigerated – 5 days

Frozen – NO

Reason for rejection:

Frozen blood EDTA tube

Performing lab:

Medical Neurogenetic (MOL229) via LabCorp (620084): R-NX

Days set up:

Mo - Fr

TAT:

2 - 4 weeks

Method:

Repeat-primed PCR (QP-PCR)

Reference ranges:

# of repeats

Clinical information:

Maximum reportable sizing: 150 repeats

Preauthorization:

This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.

CPT codes:

81234

LOINC code:

Result UNLOINC

Other billing information:

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.

Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
All information requested is required in order for your request to be completed

Molecular Medicare billing request

Date created:

05/24/2019

Revised date:

12/27/2023

Review date:

12/27/2023