Comprehensive Test List

 

 

 

 

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  Price

 

 CPT Code

Acid maltase & neutral maltase


Amino acids (full profile, plasma, urine or CSF)

PKU follow-up testing 
     Phenylalanine + tyrosine (dried blood assay)
     Short run--phenylalanine + tyrosine only
     Short run--branched chain (val, leu, ileu) only

Carnitine (tissue, serum)


Carnitine palmitoyltransferase +

 Citrate synthase


Citrate synthase

 

 

Coenzyme Q10


Cytochrome c oxidase


Fumarase


-Galactosidase


-Galactosidase


-1,4-Glucosidase


-Glucosidase


-Hexosaminidase A (Quantitative)


-Hexosaminidase A & B, Total (Quantitative)


-Hexosaminidase A & B 
  (Qualitative, Tay-Sachs carrier screen)

Lactate dehydrogenase


Mucopolysaccharide spot test (MPS)

Myoadenylate deaminase


NADH cytochrome c reductase


NADH dehydrogenase


Phosphofructokinase


3-Phosphoglycerate kinase


Phosphoglycerate mutase


Phosphorylase


Phosphorylase b kinase


Succinate cytochrome c reductase


Succinate dehydrogenase

 
Glycogen Storage Disease Profile (4 tests)


Mitochondrial Myopathy Profile (6 tests)


Modifed Mitochondrial Myopathy Profile (3 tests)


Myoglobinuria Profile
(8 tests; incl. Citrate synthase) 

Metabolic Profile

 

 

Carnitine Palmitoyltransferase II Mutation Profile

 (6 mutations)

 

 

 

Myophosphorylase (McArdle disease) Mutation Profile (2 mutations)

 

 

 

Myoadenylate Deaminase Mutation Profile (2 mutations)

 

 

 

Exercise Intolerance Mutation Profile

(7 mutations)

 

 

 

Individual Mutation Analysis*

$151.00


252.00


87.00
87.00
87.00

140.00


241.00


101.00

 

 

225.00

 

 

101.00


101.00


84.00


84.00


84.00


84.00


84.00


112.00


112.00


106.00

 

56.00

213.00


101.00


101.00


140.00


106.00


106.00


140.00


140.00


101.00


101.00


504.00


560.00


270.00


689.00

 

 

62.00

 

375.00

 

 

 

 

200.00

 

 

 

 

200.00

 

 

 

 

450.00

 

 

 

 

200.00

 

82657, 83912
84311

82139


82136, 83912
82136, 83912
82136, 83912

82379, 82658
83912

82658, 83912,

82657

82657, 84311
83912

82491

 

 

82657, 84311
83912

82657, 83912
84311

84155, 82657
83912

84155, 82657
83912

84155, 82657
83912

82963, 84155
83912

84155, 83080
83912

84155, 83080
83912

82664, 83080
83912

82657,84311, 83912

 

83864

82657, 84311
83912

82657, 84311
83912

82657, 84311
83912

82657, 84311
83912

82657, 84311
83912

82657, 84311
83912

82657, 84311
83912

82657, 84311
83912

82657, 84311
83912

82657, 84311
83912

(82657, 84311) x 4(83912)

(82657, 84311) x 6(83912)

(82657, 84311) x 3(83912)

(82657, 84311) x 6(83912)

 

80100

 

 (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)

 

 

 

*Any single mutation analysis may be requested from the above Profiles. 
 
 FYI: Before Contacting the Laboratory