FSHD-(FSHD1 & FSHD2) Detection of Abnormal Alleles with Interpretation

Label Mnemonic:	FSHD
Epic code:	LAB8104
Downtime form:	A-1a Doctor/Provider Orders - Pathology Molecular

Molecular Pathology
6240 RCP
384-9568

Specimen(s):

Whole Blood - 10 mL in EDTA tubes

Collection Medium:

	and
Pink top tube 6 mL (K2-EDTA)	and	Pink top tube 6 mL (K2-EDTA)

Minimum:

10 mL whole blood in TWO pink top tubes.

Rejection Criteria:

Frozen specimens, extracted DNA and blood specimens collected more than 5 days before receipt by the laboratory.

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:

14 days for routine FSHD1 testing or subsets of FSHD2 testing; at least 4 weeks for complete FSHD1 and FSHD2 testing.

Comments:

Optical Mapping for 4q35 deletion detection and 4qA/4qB allele determination use peripheral blood leukocytes.

Methodology:

Optical Mapping, Southern Blot; DNA sequencing

CPT Code:

81404, 81479 (x2), G0452