Test
Price
CPT Code
Acylcarnitine Profile
$110.00
82017
Alpha-1-antitrypsin deficiency (AATD) Mutation detection
Common mutation E342K - $150.00 Other individual mutations (not included in the panel) - $250.00 each Panel of 8 mutations - $300.00 Individual mutation from panel - $150.00 Full Sequencing - $600.00
83890 83891 83892 83894 83898 83904 83909 83912
Amino Acids
$140.00
82139
Carnitine Levels
$80.00
82379
CPTII (S113L) DNA Analysis
$150.00
83890 83892 83894 83898 83912
CPTII DNA Analysis - Panel of 8 mutations
$850.00 for panel or $150.00 per mutation
83890 83892* 83894* 83898* 83912 * Refer to the test definition for further information.
CPTII Enzyme Assay
$900.00
85999 (for blood) 88233 (for fibroblasts) 84157 82658
CPTII Unknown Mutation by DNA Sequencing
$2000.00
83890 83891 x12 83892 83894 x12 83898 x12 83904 x12 83909 x12 83912
Diabetes Type I DNA Analysis by INS Gene Sequencing
$750.00
83890 83891 x 3 83892 83894 x 3 83898 x 3 83904 x 3 83909 x 3 83912
Diabetes Type I Individual Known Mutation DNA Analysis
$250.00
EIF2B -Related Disorder - Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Disease (CACH/VWM) – Mutation Analysis
Sequencing of whole EIF2B gene: $5000.00 Sequencing of EIF2B Gene subunit – price based upon subunit: EIF2B1 - $950.00 EIF2B2 – $850.00 EIF2B3 - $1150.00 EIF2B4 - $1250.00 EIF2B5 – $1350.00 Mutation analysis for common mutation and panel of 50 mutations: $850.00 Target or Carrier mutation analysis: $250.00
Fabry Disease Screening
$50.00
83789
Fabry DNA Analysis - Sequencing
$1,300.00
83890 83891 x 7 83892 83894 x 7 83898 x 7 83904 x 7 83909 x 7 83912
Fabry DNA Analysis - Individual mutations
$275.00
Familial Hypertrophic Cardiomyopathy/Wolff-Parkinson-White syndrome by PRKAG2 Gene Sequencing
$1,450.00
83890 83891 x 16 83892 83894 x 16 83898 x 16 83904 x 16 83909 x 16 83912
Familial Hypertrophic Cardiomyopathy/Wolff-Parkinson-White syndrome by PRKAG2 Gene Sequencing - Individual mutation analysis
$200.00
Homocysteine (total)
$45.00
83090
Lactate in CSF
$25.00
83605
Free Sialic Acid Storage Disorder (SASD) DNA Analysis - Sequencing
$2,500.00
83890 83891 x11 83892 83894 x11 83898 x11 83904 x11 83909 x11 83912
Free Sialic Acid Storage Disorder (SASD) DNA Analysis - Individual muations
Salla Common Mutation DNA Analysis
MCAD (A985G) DNA Analysis
MCAD DNA Analysis- Panel of 8 mutations
83890 83892* 83894* 83898* 83912 * Refer to the test definition for further information
MCAD Unknown Mutation by DNA Sequencing
5-Methyltetrahydrofolate (5-MTHF)
$125.00
82491
Monoamine Neurotransmitter Metabolites
82492
Mitochondrial Beta Oxidation Defects
$850.00
88233 84157 83789
Neopterin
$65.00
Supplemental Newborn Screening
$35.00
83788
Tetrahydrobiopterin (BH4) & Neopterin (N) profile
Urine Organic Acids
$195.00
83918
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