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FSHD Southern Blot Test #405
Type of Disorder: Neuromuscular Disorders
Typical Presentation: Slowly progressive asymmetric wasting of muscles of the face, shoulder and upper arms
Disease(s) tested for: Facioscalpulohumeral muscular dystrophy (FSHD)
Test Details
Test Code: 405
Informed Consent Required: Yes
Special Notes: N/A
Technical Information
Utility: Detects deletions on chromosome 4q35 associated with FSHD
Methodology: Pulsed Field Gel Electrophoresis and Southern blot
Reference Value: Normal: restriction fragment length 41 and 330 kb
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.
CPT 2013: 81404(1)
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: 20ml
Collection Tube: Lavender top (EDTA)
Storage Conditions: Room temperature, avoid freezing
Shipping Conditions: Room temperature, avoid freezing. Ship same day, must arrive Monday - Friday.
Test Turnaround: 14-28 days
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