Test Profiles & Gene Sequence Analysis

Test Profiles List PDF

Test

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

$626

(82657, 84311) x 4

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

$675

(82657, 84311) x 6

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

$330

(82657, 84311) x 3

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

$1100

(82658) (82657, 84311) x 9

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

$579

81401, 81479 x 2

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

$660

81401, 81479 x 2

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

$479

81479

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

$253

81401

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

$230

81479

Individual Mutation Analysis*

$230

81401

 

Gene Sequence Analysis

 

 

Carnitine Palmitoyltransferase II Deficiency (CPT2 Gene)

$715

81404

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL Gene)

$924

81406

Caveolin-3 Deficiency; Rippling Muscle Disease;
Limb Girdle Muscular Dystrophy; HyperCKemia; Distal Myopathy (CAV3 Gene)

$424

81404

Myophosphorylase Deficiency; McArdle Disease
(PYGM Gene)Level 1

Exons 1 & 5

$375

81479

Myophosphorylase Deficiency; McArdle Disease
(PYGM Gene)Level 2

Exons 2, 3, 4, 6-20

$743

81406

Myophosphorylase Deficiency; McArdle Disease
(PYGM Gene)Level 1 and 2

Exons 1-20

$1073

81406

Malignant Hyperthermia (additional indications: exertional rhabdomyolysis; statin myopathy; hyperCKemia; heat stroke) (RYR1 gene) 23 exons & CACNA1S gene - 3 exons**

$1150 81479
 

RYR1 Gene – 23 exons**

$820 81479

CACNA1S Gene – 3 exons**

$330 81479
 

Familial Studies for Malignant Hyperthermia:

  • 1 exon
  • 2 exons
  • 3 exons

 

$125
$175
$225

 

81479
81479
81479

*Any single mutation analysis may be requested from the above Profiles.

** RYR1 exons 2, 6-12, 14-17, 39-41, 43-47, 100-102; CACNA1S exons 4, 5, 26