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| Limb Girdle Muscular Dystrophy (Autosomal Recessive Panel and FKRP Sequencing) | ||
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Order Form: A-1a Molecular Pathology/Diagnostics or IPR Req |
Molecular Pathology 6004 BT GH 384-9568 |
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Collection Medium: |
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Minimum: |
Adults - 3 mL whole blood in lavender top tube (EDTA) Children - 2 mL whole blood in lavender top tube (EDTA) Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube. | ||
Analytic Time: |
21 days | ||
Comments: |
Direct detection of mutations for alpha sarcoglycan R77C, beta sarcoglycan S114F and fukutin-related protein L276I will be performed initially followed by sequencing of FKRP if requested. | ||
See also: FKRP Sequencing, Whole Blood Limb Girdle Muscular Dystrophy, Autosomal Recessive (LGPCR) - Mutation Analysis, Whole Blood |
Updated: 06/12/2008
Note: The information contained in this handbook is for use by personnel of University of Iowa Health Care. No other use is implied or intended.