FSHD - Detection of Abnormal Alleles with Interpretation (FSHD1 and FSHD2)
Label Mnemonic: FSHD
Epic Lab Code: LAB8104
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Whole Blood - 15 mL in EDTA tubes
Liquid DNA specimens are not acceptable for this assay unless only sent for methylation studies or SMCHD1 sequencing. DNA sample at least 50 μl, concentration 0.25 μg/μl.

The optimum sample is 15 mL whole blood in EDTA tubes, any combination of pink or lavender top tubes. Southern blots for 4q35 deletion detection and 4qA/4qB allele determination utilize peripheral blood leukocytes embedded into agarose plugs. Methylation testing and SMCHD1 gene sequencing for FSHD2 require isolated DNA. The minimum blood volume for testing depends on the medical circumstances and the assays requested.
Delivery Instructions:
Deliver immediately or refrigerate if held overnight. Holding or shipping samples over weekends or holidays is not recommended. DO NOT FREEZE.
Testing Schedule:
Weekly
Turn Around Time:
21 days for routine FSHD1 testing or subsets of FSHD2 testing; at least 6 weeks for complete FSHD1 and FSHD2 testing.
Methodology:
Southern Blot; DNA sequencing
CPT Code:
81404