|
|
| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
FSHD Southern Blot Test
Test Code17029
CPT Codes
81404
Preferred Specimen
10 mL whole blood collected in each of two separate EDTA (lavender-top) tubes
Minimum Volume
7 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Genetic testing for FSHD requires high molecular weight DNA molecules. To prevent breakage of large DNA molecules, intact white blood cells need to be separated from anticoagulated whole blood within 72 hours of blood drawing.
Do not store specimen. Ship immediately. Must ship overnight within 72 hours from draw Monday-Thursday.
Genetic testing for FSHD requires high molecular weight DNA molecules. To prevent breakage of large DNA molecules, intact white blood cells need to be separated from anticoagulated whole blood within 72 hours of blood drawing.
Do not store specimen. Ship immediately. Must ship overnight within 72 hours from draw Monday-Thursday.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 72 hours
Refrigerated: 72 hours
Frozen: Unacceptable
Refrigerated: 72 hours
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Gross hemolysis
Methodology
Pulsed Field Gel Electrophoresis • Southern Blot
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Varies; Report available: 14-21 days
Reference Range
See Laboratory Report
Clinical Significance
Detects deletions on chromosome 4q35 in patients with facioscapulohumeral dystrophy (FSHD). FSHD is characterized by a slowly progressive asymmetric wasting of muscles of the face, shoulder and upper arms. Molecular combing may have superior analytical validity compared to Southern blot for determining D4Z4 contraction size, detecting mosaicism, and resolving borderline and indeterminate Southern blot results.
