FSHD-(FSHD1 & FSHD2) Detection of Abnormal Alleles with Interpretation
Label Mnemonic: | FSHD |
Epic code: | LAB8104 |
Downtime form: | Doctor/Provider Orders - Pathology Molecular |
Molecular Pathology
6240 RCP
384-9568
6240 RCP
384-9568
Specimen(s):
Whole Blood - 10 mL in EDTA tubes
Collection Medium:
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Pink top tube 6 mL (K2-EDTA) | 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:

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
See Additional Information:
Facioscapulohumeral Dystrophy (FSHD) Information (FSHD1 and FSHD2)
Facioscapulohumeral Dystrophy (FSHD) Information (FSHD1 and FSHD2)