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Tests, Prices and CPT Codes

Please choose the appropriate laboratory division for your needs:

Biochemical Test Information, Pricing and CPT Codes for 

Enzyme Assays   and  Analyte Tests:

 

Printer-friendly format: Biochemical Laboratory Tests, CPT Codes, and Prices (PDF)

  • Click on any underlined test below for more detailed information.
  • All plasma samples should be heparinized (collected in green-topped tubes).

PLEASE NOTE: WE DO NOT BILL PATIENTS OR THEIR INSURANCE COMPANIES.

Analyte Tests:

Test Shipping
Temperature		 Price Sample
Size (mL)		 CPT
Code

Serum (or plasma) amino acid screen1

Ambient

$45

0.3

82128

Serum (or plasma) amino acids (quant.)

Frozen

$125

0.3

82139

Serum (or plasma) branched-chain AA (quant.)

Frozen

$100

0.3

82136

Serum (or plasma) alanine (quant.)

Frozen

$100

0.3

82131

Serum (or plasma) methionine (quant.)

Frozen

$100

0.3

82131

Serum (or plasma) Glycine (quant.)

Frozen

$100

0.3

82131

Serum (or plasma) phenylalanine and
tyrosine (quant.)

Frozen

$100

0.3

82136

         

Urine amino acid/cystine screen1

Ambient

$45

2.0

82128

Urine amino acids (quant.)

Frozen

$125

2.0

82139

Urine aspartylglucosamine

Frozen

$100

2.0

82131

Urine S-sulfo-cysteine

Frozen

$100

2.0

82131

Urine phosphoethanolamine

Frozen

$100

2.0

82131

         

CSF amino acids (quant.)

Frozen

$125

0.3

82139

CSF glycine

Frozen

$100

0.3

82136

CSF glutamine

Frozen

$100

0.3

82136

         

Urine mucopolysaccharide screen

Ambient

$50

10.0

83866

         

Serum (or plasma) phytanic acid

Frozen

$150

1.0

82543

Serum (or plasma) benzoic acid

Frozen

$150

1.0

82543

Serum (or plasma) glutaric                                and 3-hydroxyglutaric acids (quant.)

Frozen

$200

1.0

82544

Serum (or plasma) methylmalonic acid (quant.)

Frozen

$150

1.0

82543

Serum (or plasma) N-acetylaspartic acid (quant.)

Frozen

$150

1.0 

82543

         

Urine organic acid screen

Ambient

$120

2.0

83919

Urine succinylacetone

Frozen

$150

2.0

82543

Urine orotic acid (quant.)

Frozen

$150

2.0

82543

Urine phenylpropionylglycine and hexanoylglycine (quant.)

Frozen

$150

2.0

82544

Urine glutaric & 3-hydroxyglutaric acids (quant.)

Frozen

$200

2.0

82544

Urine D- and L- isomers                                    of 2-hydroxyglutaric acid (qual.)

Frozen

$375

5.0

82541

Urine ethylmalonic acid (quant.)

Frozen

$150

2.0

82543

Urine methylmalonic acid (quant.)

Frozen

$150

2.0

82543

Urine N-acetylaspartic acid (quant.)

Frozen

$150

2.0 

82543

Urine 3-methylglutaconic acid (quant.)

Frozen

$150

2.0 

82543

         

Amniotic fluid glutaric & 3-hydroxyglutaric acids (prenatal; cell-free supernatant)2

Frozen

$450

2.0

82543

Amniotic fluid methylmalonic acid (prenatal; cell-free supernatant)2

Frozen

$450

2.0

82543

Amniotic fluid succinylacetone (prenatal; cell-free supernatant)2

Frozen

$450

2.0

82543

         

Urine or CSF succinylpurines                    [Bratton-Marshall Test] (qual.)

Frozen

$25

1.0

84311

         

Plasma (or serum) acylcarnitine profile

Frozen

$105

0.2

82016

Urine Trimethylamine [TMA]                             and TMA N-oxide [TMAO] (quant.)

Frozen

$250

1.0

83789

Expanded newborn screen

Ambient

$25

Blood Card

83788

         

1Total charge for serum (or plasma) plus urine amino acid screens is $45.00 if both are received together.

2Cell-free supernatant required. Include two controls of same gestational age (14-16 weeks) with patient sample, all labeled blind (i.e. numbers but no names). Consultation required before sending specimens.

Enzyme Assays:

Test Shipping
Temperature		 Price Sample
Size (mL)		 CPT
Code

Fibroblast enzyme assay for GA 13

Ambient

$600

Fibroblasts

82658

Enzyme assays for GA 2 (MADD)3
    ETF & ETF:QO combined enzyme assays

Ambient

$1,200

Fibroblasts

82657

Fibroblast enzyme assay for VLCADD3

Ambient

$990

Fibroblasts

82657

Leukocyte enzyme assay for VLCADD5

Wet ice5

$9905

5.05

82657

Glycine cleavage microassay

Frozen

$600

Liver

82657, 82658

Mitochondrial respiratory chain enzyme regular assay4

Frozen

$750

Muscle or Liver

82657 x 6

Mitochondrial respiratory chain enzyme assay - skin fibroblasts

Ambient

$1,090

 Fibroblasts 82657 x 6, 88233 x 1, 88240 x1

Mitochondrial respiratory chain enzyme microassay4

Frozen

$1,000

Liver

82657 x 6

Blue native electrophoresis with in-gel mitochondrial enzyme analysis - muscle4

Frozen

$800

Muscle

82657 x 4, 82664 x 1

Blue native electrophoresis with in-gel mitochondrial enzyme analysis - skin fibroblasts

 

Ambient

$1,150

Fibroblasts

82657 x 4, 82664 x 1, 88233 x 1, 88240 x 1

Combined mitochondrial respiratory chain enzyme assay and blue native electrophoresis with in-gel mitochondrial enzyme analysis - muscle4

Frozen

$1,300

Muscle

82657 x 10, 82664 x 1

Combined mitochondrial respiratory chain enzyme assay and blue native electrophoresis with in-gel mitochondrial enzyme analysis - skin fibroblasts

Ambient

$1,550

Fibroblasts

82657 x 10, 82664 x 1, 88233 x 1, 88240 x 1

         

3Please note: Clinical mutation analysis for GA I, GA II (MADD) and VLCADD (VLCAD) is performed by the DNA Diagnostic Laboratory.

4Tissue specimens must be immediately frozen on dry ice, stored at -70oC, and shipped frozen on dry ice. In both the regular assay and the microassay, six assays are performed — all with the same CPT code. Microassay (available on liver only) is required for specimens of less than 60 mg.

5Cost is $330 for each parent. 5.0 ml minimum of whole blood is required, collected in a purple cap (EDTA) tube. Store and ship on wet ice (not frozen). Call this laboratory before shipping.

 

List of DNA Tests, Prices & CPT Codes:

  • TAT: Turnaround times are not posted on the website. Please contact us.
  • Please note that the PDF list is updated more often than the list below. The tests are listed by disease category. You can search the list for a specific key word, gene or disorder.
  • Printer-friendly format: DNA Laboratory Test Price List (PDF)
    Send separate 5-page order form for each person, including signed consent form.
  • We can offer sequencing of individual genes within panels, on request.
  • New genes can be tested for the purpose of test development. Also, we can test for specific mutations in any gene (test #4).
  • We offer testing to support your own DNA-related research. Please contact us!
  • 5% prepay discount for all tests paid in advance by check.
  • Note: The prices listed below do NOT apply to insurance billing.
DNA Tests Offered Test #​ Price CPT Codes

General Tests​

​

​

​

DNA Isolation

1

$75

1 x 83891; 1 x 83912

Shipping: $50 plus all shipping costs

2

$50+

 

Specific Mutations (most genes on our list): 1-2 mutations

3

$250

1 x 83891; 4 x 83894; 2 x 83898; 4 x 83904; 1 x 83912

Specific Deletion-Duplication Verification by qPCR

3Q

$250

1 x 83891; 4 x 83894; 2 x 83898; 1 x 83912

Specific Mutation (any gene not on our list)

4

$350

1 x 83891; 4 x 83894; 2 x 83898; 4 x 83904; 1 x 83912

Prenatal Testing (2 mutations); includes MCC

5

$1150

3 x 83891; 28 x 83894; 14 x 83898; 28 x 83904; 3 x 83912

Prenatal Testing (1 mutation); includes MCC

6

$850

3 x 83891; 24 x 83894; 12 x 83898; 24 x 83904; 3 x 83912

Maternal Cell Contamination (MCC)

7

$350

1 x 83891; 20 x 83894; 10 x 83898; 20 x 83904; 1 x 83912

aCGH: Deletion-Duplication Targeted Exonic Oligonucleotide Microarray (Includes Verification)​

 

 

 

            1 Gene

6000+

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

            2-3 Genes

6000+

$1200

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 4 x 83912

            4-5 Genes

6000+

$1500

1 x 83891; 5 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 6 x 83912

            6-10 Genes

6000+

$2000

1 x 83891; 10 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 11 x 83912

Cardiomyopathies

 

 

 

Arrhythmogenic Right Ventricular Dysplasia, ARVD

 

 

       4-Gene Sequencing Panel: PKP2, DSP, DSG2,
              DSC2 (can also be ordered separately)

16

$2000

1 x 83891; 106 x 83894; 53 x 83898; 106 x 83904; 4 x 83912

Danon Disease, GSD IIB (X-linked), 
             LAMP2 Sequencing

22

$650

1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912

Lamin A/C-Related Disorders

 

 

       LMNA Sequencing

23

$750

1 x 83891; 22 x 83894; 11 x 83898; 22 x 83904; 1 x 83912

       LMNA Del-Dup Targeted Exonic Microarray

6023

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Clotting Disorders

 

 

 

Factor II/Prothrombin Thrombophilia, PT (20210G>A)

27

$175

1 x 83891, 1 x 83892, 2 x 83896, 1 x 83900, 2 x 83901, 1 x 83912

Factor V Leiden Thrombophilia, FV (R506Q)

24

$175

1 x 83891, 1 x 83892, 2 x 83896, 1 x 83900, 2 x 83901, 1 x 83912

MTHFR Targeted Mutations (A233V, E429A)

28

$175

1 x 83891, 1 x 83892, 4 x 83896, 1 x 83900, 2 x 83901, 1 x 83912

Cystic Fibrosis, CF, CFTR-Related Disorders

 

 

 

CFTR 23-Mutation Panel

14

$250

1 x 83891, 1 x 83892, 1 x 83900, 13 x 83901, 1 x 88384, 1 x 83912

CFTR Del-Dup Targeted Exonic Microarray

6014

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Developmental Delay or Autism

 

 

 

FMR1-Related Disorders (Fragile X, FXTAS, POI)

 

 

 

       FMR1 CGG Repeats, FX
           (includes Southern Blot if positive)

FX
#46​

$300

1 x 83891; 2 x 83892; 4 x 83894; 1 x 83896; 1 x 83897; 2 x 83898; 4 x 83904; 1 x 83912

       FMR1 Del-Dup Targeted Exonic Microarray

6046

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

PTEN-Related Disorders

 

 

 

       PTEN Sequencing

110

$950

1 x 83891; 20 x 83894; 10 x 83898; 20 x 83904; 1 x 83912

       PTEN Del-Dup Targeted Exonic Microarray

6110

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Disorders of Sex Development

 

 

 

Androgen Insensitivity Syndrome, AIS

 

 

 

       3-Gene Sequencing Panel (AR, SRY, WT1)

37

$1500

1 x 83891; 42 x 83894; 21 x 83898; 42 x 83904; 3 x 83912

            Androgen Receptor, AR Sequencing

38

$1000

1 x 83891; 20 x 83894; 10 x 83898; 20 x 83904; 1 x 83912

            XY Gonadal Dysgenesis, SRY Sequencing

39

$250

1 x 83891; 2 x 83894; 1 x 83898; 2 x 83904; 1 x 83912

            WT1-Related Disorders, WT1 Sequencing: 
                   Denys-Drash; Frasier; Wilms Tumor; 
                   Nephrotic Syndrome

40

$750

1 x 83891; 20 x 83894; 10 x 83898; 20 x 83904; 1 x 83912

WT1 Del-Dup, MLPA​ 5040​ $585​ 1 x 83891; 1x83900; 12 x 83901; 12 x 83914; 3 x 83909; 1x83912​

Early Onset Encephalopathy

 

 

 

Aicardi-Goutieres Syndrome, AGS

 

 

 

     AGS, 5-Gene Sequencing Panel 
          (TREX1, RNASEH2B, RNASEH2C, RNASEH2A, 
           SAMHD1)​

93

$1950

1 x 83891; 80 x 83894; 40 x 83898; 80 x 83904; 5 x 83912

     AGS, 5-Gene Del-Dup Targeted Exonic Microarray
           (TREX1, RNASEH2B, RNASEH2C, RNASEH2A, 
            SAMHD1)​

6093

$1500

1 x 83891; 5 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 6 x 83912

  AGS Tier 1

 

 

 

     2-Gene Sequencing Panel (TREX1, RNASEH2B)

94

$900

1 x 83891; 26 x 83894; 13 x 83898; 26 x 83904; 2 x 83912

     2-Gene Del-Dup Targeted Exonic Microarray 
                                            (TREX1, RNASEH2B)

6094

$1200

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 4 x 83912

  AGS Tier 2

 

 

 

     2-Gene Sequencing Panel
                                      (RNASEH2C, RNASEH2A)

95

$900

1 x 83891; 24 x 83894; 12 x 83898; 24 x 83904; 2 x 83912

     2-Gene Del-Dup Targeted Exonic Microarray 
                                      (RNASEH2C, RNASEH2A)

6095

$1200

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 4 x 83912

  AGS Tier 3

 

 

 

       SAMHD1 Sequencing

123

$800

1 x 83891; 30 x 83894; 15 x 83898; 30 x 83904; 1 x 83912

       SAMHD1 Del-Dup Targeted Exonic Microarray

6123

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

  AGS Individual Genes

 

 

 

       TREX1 Sequencing

96

$450

1 x 83891; 4 x 83894; 2 x 83898; 4 x 83904; 1 x 83912

       TREX1 Del-Dup Targeted Exonic Microarray

6096

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

       RNASEH2B Sequencing

97

$650

1 x 83891; 22 x 83894; 11 x 83898; 22 x 83904; 1 x 83912

       RNASEH2B Del-Dup Targeted Exonic Microarray

6097

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

       RNASEH2C Sequencing

98

$500

1 x 83891; 8 x 83894; 4 x 83898; 8 x 83904; 1 x 83912

       RNASEH2C Del-Dup Targeted Exonic Microarray

6098

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

       RNASEH2A Sequencing

99

$600

1 x 83891; 16 x 83894; 8 x 83898; 16 x 83904; 1 x 83912

       RNASEH2A Del-Dup Targeted Exonic Microarray

6099

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

       SAMHD1 Sequencing

123

$800

1 x 83891; 30 x 83894; 15 x 83898; 30 x 83904; 1 x 83912

       SAMHD1 Del-Dup Targeted Exonic Microarray

6123

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Cystic Leukoencephalopathy​ ​ ​ ​
       RNASET2 Sequencing​ 252​ ​$1250 1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912​

Fibroblast Growth Factor Receptor Disorders

 

 

 

FGFR-Related Skeletal Dysplasias & Craniosynostoses  (Syndromic & Isolated Coronal)

 

 

 

FGFR, Three-Gene Sequencing Panel (FGFR1, FGFR2, FGFR3)

241

$3200

1 x 83891; 86 x 83894; 43 x 83898; 86 x 83904; 3 x 83912

FGFR, Three-Gene Del-Dup Targeted Exonic Microarray (FGFR1+2+3)

6241

$1200

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 4 x 83912

       FGFR Individual Genes

 

 

 

FGFR1 – Pfeiffer Syndrome, Osteoglophonic Dysplasia

 

 

 

       FGFR1 Sequencing

128

$1200

1 x 83891; 26 x 83894; 13 x 83898; 26 x 83904; 1 x 83912

       FGFR1 Del-Dup Targeted Exonic Microarray

6128

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

       FGFR1 Exon-1 Sequencing for P252R Mutation – 
                Pfeiffer

234

$250

1 x 83891; 2 x 83894; 1 x 83898; 2 x 83904; 1 x 83912

FGFR2 – Crouzon, Jackson-Weiss, Beare-Stevenson, Apert, Pfeiffer

 

 

 

       FGFR2 Sequencing

129

$1200

1 x 83891; 32 x 83894; 16 x 83898; 32 x 83904; 1 x 83912

       FGFR2 Del-Dup Targeted Exonic Microarray

6129

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

       FGFR2 Exon-3 Sequencing for S252W, P253R 
           Mutations – Apert

236

$250

1 x 83891; 2 x 83894; 1 x 83898; 2 x 83904; 1 x 83912

       FGFR2 Exon-7 Sequencing for S372C, Y375C 
            Mutations – Beare-Stevenson

237

$250

1 x 83891; 2 x 83894; 1 x 83898; 2 x 83904; 1 x 83912

FGFR3

 

 

 

       FGFR3 Sequencing of the whole gene

130

$1200

1 x 83891; 28 x 83894; 14 x 83898; 28 x 83904; 1 x 83912

       FGFR3 Del-Dup Targeted Exonic Microarray

6130

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

FGFR3 Tier 1, Sequencing of Exons 7, 9, 12, 14, 18 – Panel includes: Skeletal Dysplasias (Achondroplasia; Hypochondroplasia; 
Thanatophoric Dysplasia TD1/TD2; SADDAN) + Craniosynostoses (Crouzon with Acanthosis Nigricans; Muenke Syndrome)​		 42​ $500​ 1 x 83891; 10 x 83894; 5 x 83898; 10 x 83904; 1 x 83912​
FGFR3 Tier 2, Add-on Sequencing after #42: All Except Exons 7, 9, 12, 14, 18
 (Tiers 1+2 = Full FGFR3 Sequence, Test #130)​		 142​ $700​ 1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912​
       FGFR3 Exon-14 Sequencing for K650M Mutation – SADDAN​ 45​ $250​ 1 x 83891; 2 x 83894; 1 x 83898; 2 x 83904; 1 x 83912​

       FGFR3 Exon-9 Sequencing for A391E mutation – Crouzon with Acanthosis Nigricans​

44

$250

1 x 83891; 2 x 83894; 1 x 83898; 2 x 83904; 1 x 83912​​

       FGFR3 Exon-7 Sequencing for P250R Mutation – Muenke

43

$250

1 x 83891; 2 x 83894; 1 x 83898; 2 x 83904; 1 x 83912

FMR1-Related Disorders (Fragile X, FXTAS, POI)​

​

​

​

FMR1 Gene, CGG Repeats (includes Southern Blot if positive), FX​

46​

$300​

1 x 83891; 2 x 83892; 4 x 83894; 1 x 83896; 1 x 83897; 2 x 83898; 4 x 83904; 1 x 83912​

FMR1 Del-Dup Targeted Exonic Microarray​

6046​

$750​

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912​

Hearing Loss / Deafness​

​

​

​

Connexin 26​

​

​

​

       GJB2 Sequencing

29

$450

1 x 83891; 4 x 83894; 2 x 83898; 4 x 83904; 1 x 83912

       GJB2 Del-Dup Targeted Exonic Microarray

6029

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Connexin 30

 

 

 

       GJB6 Common Deletion

30

$350

1 x 83891; 3 x 83894; 3 x 83898; 1 x 83912

       GJB6 Del-Dup Targeted Exonic Microarray

6030

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Pendred Syndrome

 

 

 

       SLC26A4 Sequencing

31

$1100

1 x 83891; 36 x 83894; 18 x 83898; 36 x 83904; 1 x 83912

       SLC26A4 Del-Dup Targeted Exonic Microarray

6031

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Waardenburg Syndrome

 

 

 

       4-Gene Sequencing Panel 
                                   (PAX3, MITF, SOX10, EDNRB)

32

$2400

1 x 83891; 68 x 83894; 34 x 83898; 68 x 83904; 4 x 83912

       PAX3 Sequencing, 
                         Waardenburg Syndrome 1, 3, CDHS

33

$650

1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912

       MITF Sequencing, 
                              Waardenburg Syndrome 2, Tietz

34

$1000

1 x 83891; 30 x 83894; 15 x 83898; 30 x 83904; 1 x 83912

       SOX10 Sequencing, 
                                        Waardenburg Syndrome 4

35

$400

1 x 83891; 6 x 83894; 3 x 83898; 6 x 83904; 1 x 83912

       EDNRB Sequencing, 
                                  Waardenburg-Shah Syndrome

36

$600

1 x 83891; 14 x 83894; 7 x 83898; 14 x 83904; 1 x 83912

Wolfram Syndrome 1/Wolframin, WFS1 Sequencing

137

$950

1 x 83891; 20 x 83894; 10 x 83898; 20 x 83904; 1 x 83912

Immune Disorders

 

 

 

Chronic Granulomatous Disease, CGD

​

​

​

       CYBB Sequencing, p91-PHOX

151

$1500

1 x 83891; 26 x 83894; 13 x 83898; 26 x 83904; 1 x 83912

       CYBA Sequencing, p22-PHOX

152

$750

1 x 83891; 12 x 83894; 6 x 83898; 12 x 83904; 1 x 83912

       NCF2 Sequencing, p67-PHOX​ 153​ $1550​ 1 x 83891; 30 x 83894; 15 x 83898; 30 x 83904; 1 x 83912​
       NCF4 Sequencing, p40-PHOX​ 154​ $1250​ 1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912​

Chediak-Higashi Syndrome, CHS1 (LYST) Sequencing

104

$1750

1 x 83891; 104 x 83894; 52 x 83898; 104 x 83904; 1 x 83912​

Iron Storage Disorders​

​

 

​

Hereditary Hemochromatosis, HFE (C282Y, H63D mutations)

47

$150

1 x 83891; 3 x 83892; 3 x 83894; 2 x 83898; 1 x 83912

Limb Anomalies with Congenital Heart Malformation

 

 

 

Duane Radial Ray Syndrome, SALL4 Sequencing

49

$950

1 x 83891; 16 x 83894; 8 x 83898; 16 x 83904; 1 x 83912

Holt-Oram Syndrome

​

 

 

       TBX5 Sequencing

50

$950

1 x 83891; 16 x 83894; 8 x 83898; 16 x 83904; 1 x 83912

       TBX5 Del-Dup Targeted Exonic Microarray

6050

$750

1 x 83891; 1 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Townes-Brock Syndrome, SALL1 Sequencing

48

$950

1 x 83891; 16 x 83894; 8 x 83898; 16 x 83904; 1 x 83912

Metabolic Disorders

​

 

 

3-Methyl-Crotonyl-CoA Carboxylase Def., 3MCC​

​

​

​

       Two-Gene Sequencing Panel (MCCC1, MCCC2)

52

$1500

1 x 83891; 34 x 83894; 17 x 83898; 34 x 83904; 2 x 83912

       Two-Gene Del-Dup Targeted Exonic Microarray 
                                                (MCCC1, MCCC2)

6052

$1200

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 4 x 83912

            MCCA, MCCC1 Sequencing

53

$900

1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912

            MCCA, MCCC1 Del-Dup Targeted Exonic 
                                                         Microarray

6053

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

            MCCB, MCCC2 Sequencing

54

$800

1 x 83891; 16 x 83894; 8 x 83898; 16 x 83904; 1 x 83912

            MCCB, MCCC2 Del-Dup Targeted Exonic 
                                                        Microarray

6054

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Biotinidase Deficiency

 

 

 

       BTD Sequencing

127

$450

1 x 83891; 10 x 83894; 5 x 83898; 10 x 83904; 1 x 83912

       BTD Del-Dup Targeted Exonic Microarray

6127

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Glutaric Acidemia Type 1, GA1

 

 

 

       GCDH Sequencing

56

$525

1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912

       GCDH Del-Dup Targeted Exonic Microarray

6056

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Glutaric Acidemia Type 2, GA2 (MADD, Multiple Acyl-CoA Dehydrogenase Deficiency)​

 

 

 

       3-Gene Sequence Panel (ETFDH, ETFA, ETFB)

57

$2400

1 x 83891; 54 x 83894; 27 x 83898; 54 x 83904; 3 x 83912

       3-Gene Del-Dup Targeted Exonic Microarray 
            (ETFDH, ETFA, ETFB)

6057

$1200

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 4 x 83912

            ETFDH Sequencing

58​

$1000

1 x 83891; 22 x 83894; 11 x 83898; 22 x 83904; 1 x 83912

            ETFDH Del-Dup Targeted Exonic Microarray​

6058​

$750​

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912​

            ETFA Sequencing

59​

$850

1 x 83891; 20 x 83894; 10 x 83898; 20 x 83904; 1 x 83912

            ETFA Del-Dup Targeted Exonic Microarray​

6059​

$750​

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912​

            ETFB Sequencing

60

$550

1 x 83891; 12 x 83894; 6 x 83898; 12 x 83904; 1 x 83912

            ETFB Del-Dup Targeted Exonic Microarray

6060

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Glutaric Acidemia Type 3, GA3, C7orf10 Sequencing

102

$1100

1 x 83891; 30 x 83894; 15 x 83898; 30 x 83904; 1 x 83912

Holocarboxylase Synthase Deficiency

 

 

 

       HCS Sequencing

61

$725

1 x 83891; 20 x 83894; 10 x 83898; 20 x 83904; 1 x 83912

       HCS Del-Dup Targeted Exonic Microarray

6061

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Homocystinuria due to Cystathionine Beta-Synthase Deficiency

 

 

 

        CBS Sequencing

62

$1200

1 x 83891; 30 x 83894; 15 x 83898; 30 x 83904; 1 x 83912

        CBS Del-Dup Targeted Exonic Microarray

6062

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Long Chain 3-Hydroxy-Acyl-CoA Dehydrogenase Deficiency, LCHAD

 

 

 

       HADHA Common Mutation (E510Q)

63

$250

1 x 83891; 1 x 83892; 1 x 83894; 1 x 83898; 1 x 83912

       HADHA Del-Dup Targeted Exonic Microarray

6063

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Maple Syrup Urine Disease, MSUD

 

 

 

       4 Targeted Ashkenazi Mutations: 
         BCKDHA Exon-9 (Y438N) and BCKDHB Exon-5 
         (R183P) + Exon-7 (G278S) + Exon-10 (E372X)​

100

$350

1 x 83891; 8 x 83894; 4 x 83898; 8 x 83904; 1 x 83912

Medium Chain Acyl-CoA Dehydrogenase Def., MCAD

 

 

 

       ACADM Common Mutation (K304E)

64

$250

1 x 83891; 1 x 83898; 2 x 83904; 1 x 83912

       ACADM Sequencing

65

$1000

1 x 83891; 22 x 83894; 11 x 83898; 22 x 83904; 1 x 83912

       ACADM Del-Dup Targeted Exonic Microarray

6065

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Methylmalonic Acidemia, MMA

​

 

 

       3-Gene Sequencing Panel (MUT, MMAA, MMAB)

66

$1500

1 x 83891; 52 x 83894; 26 x 83898; 52 x 83904; 3 x 83912

       3-Gene Del-Dup Targeted Exonic Microarray 
                                 (MUT, MMAA, MMAB)

6066

$1200

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 4 x 83912

            MUT Sequencing, Mutase Deficiency

67

$960

1 x 83891; 24 x 83894; 12 x 83898; 24 x 83904; 1 x 83912

            MUT Del-Dup Targeted Exonic Microarray

6067

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

            MMAA Sequencing

68

$480

1 x 83891; 12 x 83894; 6 x 83898; 12 x 83904; 1 x 83912

            MMAA Del-Dup Targeted Exonic Microarray

6068

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

            MMAB Sequencing

69

$640

1 x 83891; 16 x 83894; 8 x 83898; 16 x 83904; 1 x 83912

            MMAB Del-Dup Targeted Exonic Microarray

6069

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

       Cobalamin C Deficiency, MMACHC Sequencing

71

$320

1 x 83891; 8 x 83894; 4 x 83898; 8 x 83904; 1 x 83912

       Cobalamin C Def., MMACHC Del-Dup Targeted 
                                 Exonic Microarray

6071

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

       Cobalamin D Deficiency, MMADHC (C2orf25) Sequencing​ 251​ ​$550 1 x 83891; 14 x 83894; 7 x 83898; 14 x 83904; 1 x 83912​

       Cobalamin F Deficiency, MMAF: LMBRD1 
                                 Sequencing

242

$900

1 x 83891; 28 x 83894; 14 x 83898; 28 x 83904; 1 x 83912

       Epimerase Deficiency, MCEE Sequencing

72

$320

1 x 83891; 6 x 83894; 3 x 83898; 6 x 83904; 1 x 83912

       Epimerase Deficiency, MCEE Del-Dup Targeted 
                             Exonic Microarray

6072

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Propionic Acidemia

 

 

 

       2-Gene Sequencing Panel (PCCA, PCCB)

77

$1800

1 x 83891; 76 x 83894; 38 x 83898; 76 x 83904; 2 x 83912

       2-Gene Del-Dup Targeted Exonic Microarray
                                             (PCCA, PCCB)

6077

$1200

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 4 x 83912

            PCCA Sequencing

78

$1100

1 x 83891; 48 x 83894; 24 x 83898; 48 x 83904; 1 x 83912

            PCCA Del-Dup Targeted Exonic Microarray

6078

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

            PCCB Sequencing

79

$700

1 x 83891; 28 x 83894; 14 x 83898; 28 x 83904; 1 x 83912

            PCCB Del-Dup Targeted Exonic Microarray

6079

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Sepiapterin Reductase Deficiency

 

 

 

       SPR Sequencing

80

$400

1 x 83891; 6 x 83894; 3 x 83898; 6 x 83904; 1 x 83912

       SPR Del-Dup Targeted Exonic Microarray

6080

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Trimethylaminuria, TMAU (after positive biochemical testing)

 

 

 

       FMO3 Sequencing

81

$600

1 x 83891; 14 x 83894; 7 x 83898; 14 x 83904; 1 x 83912

       FMO3 Del-Dup Targeted Exonic Microarray

6081

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Very Long Chain Acyl-CoA Dehydrogenase Deficiency, VLCAD

 

 

 

       ACADVL Sequencing

82

$725

1 x 83891; 16 x 83894; 8 x 83898; 16 x 83904; 1 x 83912

       ACADVL Del-Dup Targeted Exonic Microarray

6082

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Mitochondrial Disorders

 

 

 

Multiple Mitochondrial Dysfunctions Syndrome, MMDS

 

 

 

       Fe-S Cluster Biogenesis Defects​ ​ ​ ​
            BOLA3 Sequencing​ 243​ $550​ 1 x 83891; 8 x 83894; 4 x 83898; 8 x 83904; 1 x 83912​
            NFU1 sequencing​ 244​ $950​ 1 x 83891; 16 x 83894; 8 x 83898; 16 x 83904; 1 x 83912​
PDH, Pyruvate Dehydrogenase Complex​ ​ ​ ​
       PDHA1 Sequencing​ 245​ $1200​ 1 x 83891; 20 x 83894; 10 x 83898; 20 x 83904; 1 x 83912​
POLG1-Related Disorders​
 ​ ​ ​

       POLG1 Sequencing

103

$1500

1 x 83891; 34 x 83894; 17 x 83898; 34 x 83904; 1 x 83912

       POLG1 Del-Dup Targeted Exonic Microarray

6103

$750

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Multiple Congenital Anomalies

 

 

 

Rubinstein-Taybi Syndrome, RTS

 

 

 

       2-Gene Sequencing Panel (CREBBP, EP300)

111

$2500

1 x 83891; 120 x 83894; 60 x 83898; 120 x 83904; 2 x 83912

           CREBBP Sequencing

112

$1500

1 x 83891; 62 x 83894; 31 x 83898; 62 x 83904; 1 x 83912

           EP300 Sequencing

113

$1500

1 x 83891; 58 x 83894; 29 x 83898; 58 x 83904; 1 x 83912

Smith-Lemli-Opitz Syndrome, SLOS, DHCR7 Sequencing

136

$490

1 x 83891; 14 x 83894; 7 x 83898; 14 x 83904; 1 x 83912

Neonatal Epilepsy

 

 

 

Non-Ketotic Hyperglycinemia, Glycine Encephalopathy, NKH

 

 

 

       3-Gene Sequencing Panel (AMT, GLDC, GCSH)

226

$1500

1 x 83891; 70 x 83894; 35 x 83898; 70 x 83904; 2 x 83912

       3-Gene Del-Dup Targeted Exonic Microarray
                                           (AMT, GLDC, GCSH)

6226

$1200

1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 4 x 83912

               AMT Sequencing

74

$500

1 x 83891; 12 x 83894; 6 x 83898; 12 x 83904; 1 x 83912

              AMT  Del-Dup Targeted Exonic Microarray

6074

​$750

​1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

              GLDC Sequencing

75

$950

1 x 83891; 48 x 83894; 24 x 83898; 48 x 83904; 1 x 83912

              GLDC Del-Dup Targeted Exonic Microarray

6075

​$750

​1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

              GCSH Sequencing

76

$400

1 x 83891; 10 x 83894; 5 x 83898; 10 x 83904; 1 x 83912

              GCSH Del-Dup Targeted Exonic Microarray

6076

​$750

​1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Pyridoxal-Phosphate-Dependent Neonatal Seizures

 

 

 

       PNPO Sequencing

155

$450

1 x 83891; 10 x 83894; 5 x 83898; 10 x 83904; 1 x 83912

       PNPO Del-Dup Targeted Exonic Microarray

6155

​$750

​1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Pyridoxine-Dependent Neonatal Seizures, Antiquitin, ATQ-1

 

 

 

       ALDH7A1 Sequencing

55

$680

1 x 83891; 34 x 83894; 17 x 83898; 34 x 83904; 1 x 83912

       ALDH7A1 Del-Dup Targeted Exonic Microarray

6055

​$750

​1 x 83891; 3 x 88386; 2 x 83894; 1 x 83898; 2 x 83904; 2 x 83912

Pigmentation Disorders

 

 

 

Albinism / Oculocutaneous Albinism

 

 

 

       Albinism Panel-Plus: 5-Gene Sequencing Panel (TYR, OCA2, TYRP1, SLC45A2, GPR143) 
                                + OCA2 2.7-kb Deletion

146

$2950

1 x 83891; 120 x 83894; 60 x 83898; 118 x 83904; 6 x 83912

            OCA1, TYR Sequencing

87​

$1000

1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912

            OCA2-Plus, OCA2 (P-Gene) 
                         Sequencing + 2.7-kb Deletion​

147

$1500

1 x 83891; 48 x 83894; 24 x 83898; 46 x 83904; 2 x 83912

                   OCA2 (P-Gene) Sequencing only

88

$1500

1 x 83891; 46 x 83894; 23 x 83898; 46 x 83904; 1 x 83912

                    OCA2 (P-Gene) 2.7-kb Deletion only

89

$350

1 x 83891; 2 x 83894; 1 x 83898; 1 x 83912

            OCA3, TYRP1 Sequencing

90

$1000

1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912

            OCA4, SLC45A2 (MATP) Sequencing

91

$1000

1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912

            OA1 (X-Linked Ocular Albinism), 
                                    GPR143 Sequencing

92

$800

1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912

Chediak-Higashi Syndrome, CHS1 (LYST) Sequencing

104

​$1750

​1 x 83891; 104 x 83894; 52 x 83898; 104 x 83904; 1 x 83912

Hermansky-Pudlak Syndrome

 

 

 

       HPS1, Common Puerto Rican Mutation
                             (1470_1486dup16)

83

$250

1 x 83891; 1 x 83894; 1 x 83898; 1 x 83912

       HPS3, Common Puerto Rican Mutation
                             (339_4260del3904)

85

$250

1 x 83891; 2 x 83894; 1 x 83898; 2 x 83904; 1 x 83912

       HPS3, Common Ashkenazi Jewish Mutation
                                (1163+1G>A)

86

$250

1 x 83891; 2 x 83894; 1 x 83898; 2 x 83904; 1 x 83912

Piebaldism, Mast Cell Leukemia, GIST

 

 

 

       c-KIT Sequencing

105

​$900

1 x 83891; 34 x 83894; 17 x 83898; 34 x 83904; 1 x 83912

Vision Loss / Blindness / Eye Diseases

 

 

 

Achromatopsia

 

 

 

      CNGA3 Sequencing, Achromatopsia 2

119

$595

1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912

      CNGB3 Sequencing, Achromatopsia 3

120

$850

1 x 83891; 32 x 83894; 16 x 83898; 32 x 83904; 1 x 83912

       GNAT2 Sequencing, Achromatopsia 4

121

$595

1 x 83891; 16 x 83894; 8 x 83898; 16 x 83904; 1 x 83912

       PDE6C Sequencing, Achromatopsia 5

126

$850

1 x 83891; 36 x 83894; 18 x 83898; 36 x 83904; 1 x 83912

Joubert Syndrome; Bardet-Biedl; Meckel; Senior-Loken; LCA

 

 

 

       CEP290 Sequencing

107​

$1800

1 x 83891; 96 x 83894; 48 x 83898; 96 x 83904; 1 x 83912

PAX6-Related Disorders: Isolated Aniridia, Anophthalmia, Gillespie​

 

 

 

      PAX6 Sequencing​

148​

$650​

1 x 83891; 18 x 83894; 9 x 83898; 18 x 83904; 1 x 83912​

PAX6 Del-Dup, MLPA: WAGR (Wilms Tumor, Aniridia, Genitourinary  Anomalies, Mental Retardation)​ 5148​ $495​ 1 x 83891; 1 x 83900; 13 x 83901; 13 x 83914; 3 x 83909;
1 x 83912​

Stargardt; arRP; Age-Related Macular Degeneration; CORD3​

​

​

​

       ABCA4 Sequencing​

124​

$1750​

1 x 83891; 104 x 83894; 52 x 83898; 104 x 83904; 1 x 83912​

New genes can be tested for the purpose of test development.

​

Thank you for your business. We look forward to serving you and helping your patients.