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HelpTest ID FSCN4 SCN4A (Myotonia) DNA Sequencing Test
Method Name
Next Generation Sequencing
Specimen Required
Note: Collection date and informed consent are required.
Container/Tube: Lavender-top (EDTA)
Specimen Volume: 8 mL
Pediatric (0-3 years) Volume: 2 mL
Collection Instructions:
1. Invert several times to mix.
2. Send ambient.
Additional Information: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients aged 0 to 3 years have higher WBC, yielding more DNA per mL of blood.
Reporting Name
SCN4A (Myotonia) DNA SequencingSpecimen Type
Whole Blood EDTASpecimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood EDTA | Ambient (preferred) | 10 days |
| Refrigerated | 10 days |
Report Available
21 to 35 daysPerforming Laboratory
Athena DiagnosticsLOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| FSCN4 | SCN4A (Myotonia) DNA Sequencing | Not Provided |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| FSCN4 | SCN4A (Myotonia) DNA Sequencing | Not Provided |
Day(s) Performed
Varies
CPT Code Information
81406
Specimen Minimum Volume
6 mL; Pediatric (0-3 years): 1 mL
Reference Values
No mutation detected
A final report will be attached in MayoAccess.