|
Test Catalog
|
|
Glycogen Storage Myopathy 'B' Profile |
#503 |
|
| Type of Disorder: |
Neuromuscular Disorders |
|
| Typical Presentation: |
Adults may present with high CK levels and myopathy, usually without weakness, infants present with severe hypotonia along with high CK levels and fail to thrive |
|
| Disease(s) tested for: |
Glycogen storage disorder, Phosphofructokinase deficiency (PFK) |
|
| Test Details |
|
| Test Code: |
503 |
|
| Informed Consent Required: |
No |
|
|
| Special Notes: |
N/A |
|
| Technical Information |
|
| Utility: |
Detects levels of enzyme activity in muscle |
|
| Methodology: |
Specific enzyme determinations |
|
| Reference Value: |
Test report lists normal reference values |
|
| Patents: |
N/A |
| CPT Coding |
|
|
The CPT codes provided are based on AMA guidelines
and are for informational purposes only. CPT coding
is the sole responsibility of the billing party.
Please direct any questions regarding coding to
the payer being billed.
|
| Stacked CPT Code(s): |
84311(2) |
|
| CPT 2013: |
84311(2) |
|
| Shipping Considerations |
|
| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
|
| Preferred Specimen Requirements |
| Type: |
Muscle tissue |
| Minimum Volume: |
100mg |
| Collection Tube: |
Cryovial |
|
| Storage Conditions: |
Freeze immediately in liquid nitrogen; then store at -70° celsius |
|
| Shipping Conditions: |
Ship frozen (10 lbs dry ice). Ship using a Muscle Biopsy Shipping Container, provided by Athena. |
|
| Test Turnaround: |
14-28 days |
|
|
|
