|
Test Catalog
|
|
Spinal Muscular Atrophy with Respiratory Distress (SMARD) - IGHMBP2 DNA Sequencing Test |
#212 |
|
| Type of Disorder: |
Motor Neuron Disease |
|
| Typical Presentation: |
Spinal muscular atrophy is characterized by progressive muscle weakness caused by the degeneration of lower motor neurons that are responsible for controlling voluntary muscle movement including walking, crawling, swallowing, and head and neck control. Age of onset ranges from before birth to adolescence or young adulthood. The most common type of SMA (Type 1) is associated with respiratory failure and death before the age of two. SMA with Respiratory Distress is a known variant of SMA. |
|
| Indications for Testing: |
Symptomatic patients consistent with SMA |
|
| Disease(s) tested for: |
Spinal muscular atrophy with Respiratory Distress |
|
| Test Details |
|
| Test Code: |
212 |
|
| Profiles that contain this test: |
Complete SMA Evaluation (Reflexive)
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Special Notes: |
Consider testing patients for homozygous deletion and sequencing prior to this gene. See test codes 111D and 211 for further details. |
|
| Technical Information |
|
| Utility: |
Confirm diagnosis of SMA with Respiratory Distress (SMARD) |
|
| Methodology: |
DNA Sequencing |
|
| Reference Value: |
No point mutations identified in IGHMBP2 |
| 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): |
83891, 83909(18), 83912, 83909(18), 83898(18), 83904(18) |
|
| 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: |
Whole blood |
| Minimum Volume: |
2-4 mL |
| Collection Tube: |
Lavender top (EDTA) |
|
| Alternate
Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
2-4 mL |
| Collection Tube: |
Yellow top (ACD-A or ACD-B) |
|
| Storage Conditions: |
Room temperature: 5 days; Refrigerated: 14 days; Frozen: Unacceptable |
|
| Shipping Conditions: |
Room temperature. Clotted specimens will be rejected. |
|
| Test Turnaround: |
21-28 Days |
|
|
|
