FSHD-(FSHD1 & FSHD2) Detection of Abnormal Alleles with Interpretation
Label Mnemonic: FSHD
Epic code: LAB8104
Order form: FSHD1 and FSHD2 Requisition

FSHD1 and FSHD2 International Requisition
Whole Blood - 15 mL in EDTA tubes
Collection Medium:
and and
Pink top tube 6 mL (K2-EDTA) Pink top tube 6 mL (K2-EDTA) Pink top tube 6 mL (K2-EDTA)
15 mL whole blood in THREE pink top tubes.
Rejection Criteria:
Frozen specimens, extracted DNA and blood specimens collected more than 5 days before receipt by the laboratory.
Testing Schedule:
Turn Around Time:
14 days for routine FSHD1 testing or subsets of FSHD2 testing; at least 4 weeks for complete FSHD1 and FSHD2 testing.
Optical Mapping for 4q35 deletion detection and 4qA/4qB allele determination use peripheral blood leukocytes. Occasionally, Southern blot analysis is required for analysis with complex alleles and uses peripheral blood leukocytes.

See further details on "Optical Mapping".
Optical Mapping, Southern Blot; DNA sequencing
Sample Processing:
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.
Sample Storage:
Refrigerate the whole blood if it is necessary to be held overnight. Holding samples over weekends or holidays is not acceptable. DO NOT FREEZE.
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.
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.
For international shipments, an Importer Certification Statement must be completed and submitted with each individual referral case.
CPT Code: