Spinal Muscular Atrophy Carrier Screening and Diagnostic
Test Mnemonic
SMAGEN
CPT Codes
- 81401 - QTY (1)
- 81329 - QTY (1)
Aliases
- Krugelberg-Welander Disease
- SMA
- SMN1
- SMN2
- Werdig-Hoffman Disease
Performing Laboratory
Cleveland Clinic Laboratories
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 4 mL | Blood, peripheral | EDTA (Lavender) | Ambient | Blood specimens are transported and stored at room temperature no longer than 48 hours. |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 0.5 mL | Newborn and infant draws are especially arduous but a minimum of 0.5ml is imposed. |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | Blood may be transported ambient temperature within 48 hours. |
| Refrigerated | Blood may be transported ambient temperature within 24 hours. After 48 hours blood must be stored at 2-8 degree C for up to 7 days. |
| Frozen | Frozen samples will be rejected. |
Days Performed
2 days per week
Turnaround Time
7 days
Methodology
| Name | Description |
|---|---|
| Polymerase Chain Reaction (PCR) |
Reference Range
Special Info
Newborn and infant draws are especially arduous but a minimum of 0.5ml is imposed. Blood specimens are transported and stored at room temperature no longer than 48 hours.