Test Profiles

Glycogen Storage Disease Profile
- Acid & neutral maltase
- Phosphorylase
- Phosphorylase b kinase
- Phosphofructokinase
- Tissue: muscle

$575

(82657, 84311) x 4
(83912)

Mitochondrial Myopathy Profile
- NADH dehydrogenase
- NADH cytochrome c reductase
- Succinate dehydrogenase
- Succinate cytochrome c reductase
- Cytochrome c oxidase
- Citrate synthase
- Tissue: muscle, liver

$600

(82657, 84311) x 6
(83912)

Modified Mitochondrial Myopathy Profile
- Succinate dehydrogenase
- Cytochrome c oxidase
- Citrate synthase
- Tissue: muscle, liver

$325

(82657, 84311) x 3
(83912)

Myoglobinuria Profile
- Phosphorylase
- Phosphorylase b kinase
- Phosphofructokinase
- Phosphoglycerate kinase
- Phosphoglycerate mutase
- Lactate dehydrogenase
- Carnitine palmitoyltransferase
- Myoadenylate deaminase
- Citrate synthase
- Tissue: muscle

$850

(82658) (82657, 84311) x 9
(83912)

Exercise Intolerance Mutation Profile 
[CPT2, PYGM, AMPD1 genes] (8 mutations)

$525

(83891) (83898, 83914, 83894) x 16 (83912)

Exercise Intolerance Mutation Profile + Expanded CPT2 Gene Analysis
(10 mutations)

$600

(83891) (83898, 83914, 83894) x 20 (83912)

Carnitine Palmitoyltransferase (CPT2 gene) Mutation Profile (6 mutations)

$435

(83891) (83898, 83914, 83894) x 12 (83912)

Myophosphorylase [McArdle disease; GSD V] (PYGM gene) Mutation Profile (2 mutations)

$230

(83891) (83898, 83914, 83894) x 4 (83912)

Myoadenylate Deaminase (AMPD1 gene) Mutation Profile   (2 mutations)

$230

(83891) (83898, 83914, 83894) x 4 (83912)

Individual Mutation Analysis*

$230

(83891) (83898, 83914, 83894) x 2 (83912)

Gene Sequence Analysis

Carnitine Palmitoyltransferase (CPT2) Gene Sequence Analysis

$650

(83891) (83904) x 14 (83898) x 5
(83912)