Diagnostic testing: Metabolic muscle disease testing

Metabolic Muscle Disease Testing

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Request for Laboratory Analysis - Metabolic Myopathy Mutation Profiles

Specimen Requirements for Biochemical and Molecular Testing

Muscle Disease Test Price List

Request for Laboratory Analysis–Metabolic Muscle Disease Testing

	Price		CPT Code
Mitochondrial Myopathy Profile NADH dehydrogenase NADH cytochrome c reductase Succinate dehydrogenase Succinate cytochrome c reductase Cytochrome c oxidase Citrate synthase* Tissue Requirement: 125 mgs or 25 mgs/test. (skeletal or cardiac muscle)	$560.00 101.00 101.00 101.00 101.00 101.00 101.00		(82657, 84311) x 6 (83912)
Coenzyme Q10 Analysis Tissue Requirement: 100 mgs frozen skeletal muscle	225.00		82491

Fatty Acid Transport, Mitochondrial Carnitine, free and esterified Carnitine palmitoyltransferase Tissue Requirement: 50 mgs/test.	140.00 140.00		82379, 82658 83912 82658, 83912

Modified Mitochondrial Myopathy Profile Succinate dehydrogenase Cytochrome c oxidase Citrate synthase* Tissue Requirement: 50 mgs.	270.00 101.00 101.00 101.00		(82657, 84311) x 3 (83912)

Additional Mitochondrial Tests Fumarase Tissue Requirement: 25 mgs/test.	101.00		82657, 83912 84311


Glycogen Storage Disease Profile Acid & neutral maltase Phosphorylase Phosphorylase b kinase Phosphofructokinase Tissue Requirement: 200 mgs. (skeletal or cardiac muscle) or 25 mgs/test unless otherwise noted.	504.00 151.00 140.00 140.00 140.00		(82657, 84311) x 4 (83912)

Myoglobinuria Profile Phosphorylase Phosphorylase b kinase Phosphofructokinase Phosphoglycerate kinase Phosphoglycerate mutase Carnitine palmitoyltransferase (CPT) (50 mgs) Tissue Requirement: 200 mgs. or 25g/test.	588.00 140.00 140.00 140.00 106.00 106.00 140.00		(82657, 84311) x 6 (83912)

Purine Metabolism Defects Myoadenylate deaminase & adenylate kinase Tissue Requirement: 50 mgs. Carnitine Palmitoyl Transferase II Mutation Profile Myophosphorylase (McArdle Disease) Mutation Profile Myoadenylate Deaminase Mutation Profile Exercise Intolerance Mutation Profile Individual Mutation Analysis **	213.00 375.00 200.00 200.00 450.00 200.00		82657, 84311 83912 (83891) (83892, 83893, 83896) x 12; (83894, 83898) x 4 (83912) (83891) (83892, 83893, 83896) x 4 (83894, 83898) x 2 (83912) (83891) (83892, 83893, 83896) x 4 (83894, 83898) x 2 (83912) (83891) (83892, 83893, 83896) x 14; (83894, 83898) x 8 (83912) (83891) (83892, 83893, 83896) x 2 (83894) (83898) (83912)

Citrate synthase will be quantified as a marker for mitochondrial content with any mitochondrial enzyme test requested including CPT. * Any single mutation analysis may be requested from the above Profiles.
Shipping & Handling: Tissue should be snap frozen in liquid nitrogen at the time of biopsy, stored at -70ºC until shipment, then sent to the laboratory on dry ice by overnight carrier. Please notify the laboratory by telephone at the time of shipment.
FYI: Before Contacting the Laboratory