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Limb Girdle Muscular Dystrophy Evaluation #603
Type of Disorder: Neuromuscular Disorders
Typical Presentation: Face-sparing, proximal > distal progressive myopathy with elevated CK. Age of onset ranges from infancy to late adulthood. May involve cardiac or respiratory complications.
Disease(s) tested for: Limb girdle muscular dystrophy
Test Details
Test Code: 603
Profile includes: Calpain 3 DNA Sequencing Test, CAPN3 Deletion Analysis, Caveolin 3 DNA Sequencing Test, Dysferlin DNA Sequencing Test, FKRP DNA Sequencing Test, MYOT DNA Sequencing Test, SGCA Deletion Test, SGCA DNA Sequencing Test, SGCB DNA Sequencing Test, SGCD DNA Sequencing Test, SGCG Deletion Test, SGCG DNA Sequencing Test, Lamin A/C DNA Sequencing Test
Informed Consent Required: Yes
Technical Information
Utility: Detects mutations in the CAPN3, DYSF, CAV3, FKRP, LMNA, MYOT, SGCA, B, D and G genes and deletions in the CAPN3, SGCA and G genes
Methodology: DNA Sequencing, MLPA
Reference Value: No sequence alteration detected in the CAPN3, DYSF, CAV3, FKRP, LMNA, MYOT, SGCA, B, D and G genes and no deletions detected in the CAPN3, SGCA and G genes
CPT Coding
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
CPT 2013: 81404(3), 81405(5), 81406(2), 81408(1), 81479(1)
Shipping Considerations
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Preferred Specimen Requirements
Type: Whole blood
Minimum Volume: 20 mL
Collection Tube: Lavender top (EDTA)
Storage Conditions: Refrigerate
Shipping Conditions: Ship same day. Must arrive at Athena on a weekday.
Test Turnaround: 5-6 weeks
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