FHL1-RELATED MYOPATHIES (FHL1 Familial Mutation Analysis)
- Synonyms: Myofibrillar Myopathy, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM, MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA, MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE
- LIS Mnemonic: MBFHL1PT
Collect
Collect whole blood in a purple top (EDTA) tube.
Volume Required
5ml
Minimum Required
3ml
Transport
Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.
Stability
Whole blood can be refrigerated until shipment.
Unacceptable conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Specimen Handling
Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.
Days Performed
Mon - Fri 9:00am to 4:00pm
Reported
2-3 weeks
CPT
81479
Disease Information
Test Methods:
Sequence analysis of the FHL1 mutation previously identified in a family member will be performed.
Detection Rate:
The analytical sensitivity is close to 100% for point mutations by DNA sequencing.
Results:
Test results with interpretation will be mailed and/or faxed to the referring physician or laboratory following completion of the test. Additional reports will be provided as requested.
Remarks
Whole blood in EDTA purple top tubes is the preferred sample. High molecular weight genomic DNA, cheek epithelial cells, or other samples containing DNA may be acceptable. Contact the laboratory for specific instructions regarding such samples before sending the sample.
Contact Us
- (215) 590-8736
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