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FSHD (FSHD1,FSHD2) Detect, Abnormal Allele with Interpretation
Test Code11171
CPT Codes
81404<br>Restricted Client Code
Preferred Specimen
18 mL whole blood: 6 mL whole blood collected in three separate K2 EDTA (pink-top) tubes
Minimum Volume
15 mL whole blood in 3 pink top tubes
Instructions
Do not centrifuge.
Label transport tube with two patient identifiers, date and time of collection.
Patient's age and sex is required on requisition for processing. Relevant clinical information must be submitted with specimen in order to provide correct interpretation of test results.
Submit whole blood in original container.
Transport Instructions:
To reduce the chance of delay, ship specimens on the same day of collection. Avoid shipping over any holidays and weekends. Ship at refrigerated temperature in a Styrofoam container.
Ship first overnight, collect Monday, Tuesday and Wednesday.
Prevent freezing of the specimen by insulating the specimen tube with bubble wrap, paper towels or cardboard to prevent contact with the coolant in the container. A frozen specimen cannot be used for testing. Place packing list into outside pocket of bag. Specimens are time sensitive. Best practice is to have specimens sent directly to UIDL as specimen begins to degrade immediately after collection Client will need to use the direct ship process to UIDL.
Label transport tube with two patient identifiers, date and time of collection.
Patient's age and sex is required on requisition for processing. Relevant clinical information must be submitted with specimen in order to provide correct interpretation of test results.
Submit whole blood in original container.
Transport Instructions:
To reduce the chance of delay, ship specimens on the same day of collection. Avoid shipping over any holidays and weekends. Ship at refrigerated temperature in a Styrofoam container.
Ship first overnight, collect Monday, Tuesday and Wednesday.
Prevent freezing of the specimen by insulating the specimen tube with bubble wrap, paper towels or cardboard to prevent contact with the coolant in the container. A frozen specimen cannot be used for testing. Place packing list into outside pocket of bag. Specimens are time sensitive. Best practice is to have specimens sent directly to UIDL as specimen begins to degrade immediately after collection Client will need to use the direct ship process to UIDL.
Transport Temperature
Refrigerated (cold packs)
Specimen Stability
Room temperature: 24 hours
Refrigerated: 5 days
Frozen: Unacceptable
Refrigerated: 5 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Frozen specimens, extracted DNA and blood specimens collected more than 5 days before receipt by the laboratory
Methodology
Optical Mapping • Southern Blot • DNA Sequencing
Setup Schedule
Set up: Weekly; Report available: 14 days for routine FSHD1 testing or subsets of FSHD2 testing; at least 4 weeks for complete FSHD1 and FSHD2 testing
