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HelpFacioscapulohumeral Muscular Dystrophy Test
Clinical System Name
Miscellaneous Test
Description
Optical mapping of 4q35 and 10q26 repeat alleles, with reflex to D4Z4 methylation analysis, with reflex to sequencing of SMCHD1, LRIF1, and DNMT3B to analyze genetic causes of facioscapulohumeral muscular dystrophy (FSHD1 and FSHD2) at University of Iowa Diagnostic Laboratories.
Sample Requirements
Specimen: Whole Blood
Container(s): Lavender Top/EDTA
Preferred Vol: 12.0 mL
Minimum Vol: 10.0 mL
Notes: Testing requires a dedicated collection tube (cannot share with other tests). Extracted DNA is NOT acceptable.
Processing Instructions
Reject due to:
Spin: N
Aliquot: N
Temp: 2 - 4 C
Storage Location: CPA 3 refrigerator, Send Outs rack.
Off-site Collection: Send whole blood refrigerated.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood | Room Temp | 24 h |
| Refrigerated | < 5 d | |
| Frozen | Unacceptable |
Availability
| STAT | TAT |
|---|---|
| N | 14 d * |
Note: *14 days for routine FSHD1 testing or subsets of FSHD2 testing; at least 4 weeks for complete FSHD1 and FSHD2 testing.
Performing Laboratory
University of Iowa Diagnostic Laboratories
Department of Pathology
200 Hawkins Drive, 5231 RCP
Iowa City, IA, 52242
Phone Number: (866) 844-2522
Department
Department: Send Outs/Genetics
Phone Number: (206) 987-2563
Methodology
Optical mapping, reflex to Southern Blot, reflex to next-generation sequencing of exons for SMCHD1, LRIF1, and DNMT3B.
Reference Range
Interpretive report is provided.
Clinical Utility
A genetic diagnosis may have implications for treatment, management, recurrence risk, and family member testing.
Send Out Instructions
| Reference Test Name: |
FSHD-(FSHD1 & FSHD2) Detection of Abnormal Alleles with Interpretation |
| Reference Test Number: | FSHD |
| Instructions: | Ship ambient temperature Priority Overnight via FedEx to UIDL. Ship on Mondays through Wednesday only to avoid potential weekend deliveries. |