Comprehensive Test List

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Test   Price  CPT Code
■  Acid maltase & neutral maltase $175 82657, 83912, 84311
■  Amino acids (full profile, plasma, urine or CSF) $275 82139, 83912

■  PKU and MSUD follow-up testing

        Phenylalanine + tyrosine (dried blood assay)

        Short run – phenylalanine + tyrosine only

        Short run – branched chain (val, leu, ileu) only

$100
$100
$100
82136, 83912
82136, 83912
82136, 83912
■  Carnitine (tissue, serum) $180 82379, 82658, 83912
■  Carnitine palmitoyltransferase + citrate synthase $280 82658, 82657, 83912
■  Citrate synthase $115 82657, 84311, 83912
■  Coenzyme Q10 $225 82491, 83912
■  Cytochrome c oxidase $115 82657, 84311, 83912
■  Fumarase $115 82657, 84311, 83912
■  α-Galactosidase $100 84155, 82657 83912
■  β-Galactosidase $100 84155, 82657, 83912
■  α-1,4-Glucosidase $100 84155, 82657, 83912
■  β-Glucosidase $100 82963, 84155, 83912

■  β-Hexosaminidase A & B

       (Qualitative, Tay-Sachs carrier screen)
$150 82664, 83080, 83912
■  Lactate dehydrogenase $115 82657,84311, 83912
■  Mucopolysaccharide spot test (MPS) $56 83864, 83912
■  Myoadenylate deaminase $235 82657, 84311, 83912

■  NADH cytochrome c reductase

 
$115 82657, 84311, 83912
■  NADH dehydrogenase $115 82657, 84311, 83912
■  Phosphofructokinase $150 82657, 84311, 83912
■  3-Phosphoglycerate kinase $150 82657, 84311, 83912
■  Phosphoglycerate mutase $150 82657, 84311, 83912
■  Phosphorylase $150 82657, 84311, 83912
■  Phosphorylase b kinase $150 82657, 84311, 83912
■  Succinate cytochrome c reductase $115 82657, 84311, 83912
■  Succinate dehydrogenase $115 82657, 84311, 83912
Test Profiles    
■  Glycogen Storage Disease Profile (4 tests) $575 (82657, 84311) x 6 (83912)
■ Mitochondrial Myopathy Profile (6 tests) $600 (82657, 84311) x 6 (83912)
■  Modified Mitochondrial Myopathy Profile (3 tests) $325 (82657, 84311) x 3 (83912)
■  Myoglobinuria Profile (9 tests, incl. citrate synthase) $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 mutation analysis (10 mutations)
$600 (83891) (83898, 83914, 83894) x 20 (83912)

■  Carnitine Palmitoyltransferase II (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

    (Any single mutation analysis may be requested from

    the above Profiles)

 

 $230 (83891) (83898, 83914, 83894) x 2  (83912)
Gene Sequence Analysis    

■  Carnitine Palmitoyltransferance II (CPT2)

        (Gene Sequence Analysis)
$650 (83891) (83904) x 14 (83898) x 5 (83912)

Turnaround Time

Turnaround times for laboratory testing vary in our laboratory depending on the number of tests requested by individual clients and the volume of testing at any particular time in the laboratory. Priority is given to critically ill patients and infants < 12 months of age.

Biochemical Muscle Profiles:  15 to 20 business days
Molecular Profiles:               <15 business days
Coenzyme Q10 Analysis:     < 20 business days
Amino Acid Analysis:               3 to 5 business days     
Tay-Sachs Carrier Testing        5 to 10 business days     

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

FYI: Before Contacting the Laboratory

Robert Guthrie Biochemical & Molecular Genetics Laboratory Room A-762, 100 High Street, Buffalo, NY 14203
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