ARUP Pediatrics Test Menu

ARUP offers a test menu that accommodates more than 99 percent of pediatric testing requests for the diagnosis and management of conditions that affect the healthy growth and development of the pediatric patient. With a large percentage of testing performed at ARUP, children’s hospitals can be more operationally efficient with their referral testing.

Search our Full Laboratory Test Directory

Search our entire Laboratory Test Directory for all available pediatrics testing:


Test # Test Name Additional Information
2007533 Progressive Myoclonic Epilepsy (PME) Panel, Sequence Analysis and Exon-Level Deletion/Duplication Additional Technical Information
0081335 1,5 Anhydroglucitol (Glycomark)
0092331 11-Deoxycortisol Quantitative by LC-MS/MS, Serum or Plasm
0092333 17-Hydroxypregnenolone Quantitative by LC-MS/MS, Serum or Plasma
0092332 17-Hydroxyprogesterone Quantitative by LC-MS/MS, Serum or Plasma
2002348 25-Hydroxyvitamin d2 and d3, Serum by Tandem Mass Spectrometry
0060245 Acanthamoeba and Naegleria Culture
2006848 Acetylcholinesterase and Fetal Hemoglobin, Amniotic Fluid
0051266 Achondroplasia (FGFR3) 2 Mutations
0049010 Acid Hemolysin (Ham Test)Paroxysmal Nocturnal Hemoglobinuria (PNH) PNH testing with Flaer by flow cytometry may be a better test to evaluate for PNH
2002719 Acute Lymphocytic Leukemia (ALL) Panel by FISH, Pediatric
0051382 ACVRL1 and ENG Sequencing and Deletion/Duplication
0040033 Acylcarnitine Quantitative Profile, Plasma
0081170 Acylglycine, Quantitative, Urine
0030056 ADAMTS13 Activity
0083001 Adenosine Deaminase, RBC
0065066 Adenovirus 40-41 Antigens by EIA
2007473 Adenovirus by Qualitative PCR
2007547 Adolescent-Onset Epilepsy Panel, 21 Genes Additional Technical Information
0092330 Adrenal Steroid Quantitative Panel by LC-MS/MS, Serum
0055421 Allergen, Drugs, Amoxicillin
0099628 Allergen, Drugs, Penicillin G (major)
0099629 Allergen, Drugs, Penicillin V (minor)
0055037 Allergen, Epidermals and Animal Proteins, Feather Mix
0097653 Allergen, Food, Casein (Cow's Milk) IgG
0099569 Allergen, Food, Gluten
2007619 Allergen, Food, Goat Milk IgE
0055020 Allergen, Food, Milk (Cow's)
0055024 Allergen, Food, Peanut
0055054 Allergen, Food, Rice
0099639 Allergen, Food, Strawberry
0055034 Allergen, Food, Wheat
0055122 Allergens, Animal, Dog/Cat Epithelium Profile
0055170 Allergens, Dust/Mite Profile
0055105 Allergens, Hymenoptera, Bee Venom Profile
0050529 Allergens, Pediatric Allergy, March (Progression) Profile
0055121 Allergens, Pediatric Foods Profile 1
0055300 Allergens, Pediatric Foods/Inhalants Profile
0055365 Allergens, Pediatric Inhalants, Southwest
0050152 Allergens, Pediatric Profile IgE
2011708 Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication
2001582 Alpha Globin (HBA1 and HBA2) Sequencing
0051495 Alpha Thalassemia (HBA1 & HBA2) 7 Deletions
0051256 Alpha-1-Antitrypsin & A1A Genotype with Reflex to Phenotype
2002398 Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication
2009389 Amino Acids Quantitative by LC-MS/MS, Plasma
2009419 Amino Acids Quantitative by LC-MS/MS, Urine
0080137 Amino Acids Quantitative, CSF
0020043 Ammonia, Plasma
2005419 Androstanediol Glucuronide Quantitative
2001638 Androstenedione, Serum or Plasma
0040208 Aneuploidy Panel by FISH (13, 18, 21, X, & Y—newborn whole blood)
2005564 Angelman Syndrome (UBE3A) Sequencing
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation
0050080 Anti-Nuclear Antibodies (ANA), IgG by ELISA with Reflex to ANA, IgG by IFA
0010004 Antibody Detection, RBC
0030010 Antithrombin, Enzymatic (Activity)
0030192 APC Resistance Profile with Reflex to Factor V Leiden
0050029 Apolipoprotein B
0051415 Ashkenazi Jewish Diseases, 16 Genes
2008443 ATP7A-Related Copper Transporter Disorders (ATP7A) Deletion/Duplication
2007210 Autoimmune Liver Disease Evaluation with Reflex to Smooth Muscle Antibody (SMA), IgG by IFA
0099505 Autoimmune Lymphoproliferative Profile
0095940 B-Cell Immunodeficiency Profile
0030191 B-Type Natriuretic Peptide
0092311 Barbiturates - Confirmation - Meconium
0093057 Bartonella Species by PCR
2005010 BCR-ABL1, Qualitative with Reflex to BCR-ABL1 Quantitative
2010113 Beta Globin (HBB) Deletion/Duplication
2010117 Beta Globin (HBB) Sequencing and Deletion/Duplication
0080432 Beta-2 Microglobulin, Urine
0051288 Beta-2-Adrenergic Receptor Gene Haplotyping (Arg16Gly, Gln27Glu)
0051730 Biotinidase Deficiency (BTD) Sequencing Additional Technical Information
0051700 Biotinidase Deficiency (BTD), 5 Mutations
0093362 Biotinidase, Serum (with paired normal control)
2003417 Bleeding Disorders (Common)
2003947 Bleeding Disorders (Uncommon) with Reflex to Factor XIII 1:1 Mix and/or Fibrinogen Antigen
0051433 Bloom Syndrome (BLM),1 Variant
2001774 Bordetella pertussis Antibodies, IgA and IgG by ELISA with Reflex to Immunoblot
2001775 Bordetella pertussis Antibodies, IgA, IgG, and IgM by ELISA with Reflex to Immunoblot
2004328 Bordetella pertussis Antibodies, IgA, IgG, and IgM by Immunoblot
0065078 Bordetella pertussis by PCR
0065080 Bordetella pertussis/parapertussis by PCR
0050267 Borrelia burgdorferi Antibodies, Total by ELISA with Reflex to IgG & IgM by Western Blot (Early Disease)
2011601 Buprenorphine, Meconium, Quantitative
0050182 C-Reactive Protein, High Sensitivity
0070416 C-Telopeptide, Beta-Cross-linked, Serum
0025040 Cadmium, Urine
2002282 CAH 11-Beta Hydroxylase Deficiency Panel
2002283 CAH 21 Hydroxylase Deficiency Panel
0020135 Calcium, Ionized, Serum
0092303 Calprotectin, Fecal
2010673 CALR (Calreticulin) Exon 9 Mutation Analysis by PCR
0051453 Canavan Disease (ASPA), 4 Variants
0090615 Carbamazepine, Free and Total
0090260 Carbamazepine, Total
0051682 Carnitine Deficiency, Primary (SLC22A5) Sequencing
2004203 Carnitine Deficiency, Primary (SLC22A5) Sequencing and Deletion/Duplication
0081110 Carnitine Panel
0080068 Carnitine, Free & Total (Includes Carnitine, Esterified)
0081308 Carnitine, Free and Total, Urine
0080065 Carnitine, Free, Plasma
0080067 Carnitine, Total, Plasma
0080407 Catecholamines Fractionated by LC-MS/MS, Urine Free
2011114 CBFB-MYH11 inv(16) Detection, Quantitative Additional Technical Information
2004931 CDKL5-Related Disorders (CDKL5) Sequencing Additional Technical Information
2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication
2005018 Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Do not use in the initial evaluation for celiac disease. Useful in ruling out celiac disease (CD) (high negative predictive value) in selective clinical situations such as:
• Equivocal small-bowel histologic finding (Marsh I-II) in seronegative individuals
• Evaluation of individuals on a gluten-free diet (GFD) in whom no testing for CD was done before GFD
0051689 Celiac Disease Dual Antigen Screen Acceptable single screening test for celiac disease. More expensive than single Tissue Transglutaminase (tTg) Antibody, IgA test (0097709) or Celiac Disease Reflexive Cascade (2008114). Positive results must be confirmed with IgA and IgG tests for tTG and deamidated gliadin peptide (DGP).
2002026 Celiac Disease Dual Antigen Screen with Reflex Acceptable reflexive screening test for celiac disease. Positive screen results reflex to IgA and IgG antibody testing for tissue transglutaminase antibody (tTG) and deaminated gliadin peptide antibody (DGP). Preferred screening test is Celiac Disease Reflexive Cascade (2008114) or Tissue Transglutaminase (tTG) Antibody, IgA (0097709) testing.
2008114 Celiac Disease Reflexive Cascade Preferred reflex screening test for celiac disease. Cascade contains all tests, including IgA levels necessary for initial serologic evaluation of celiac disease.
0060715 Chlamydia Pneumoniae by PCR
0060241 Chlamydia trachomatis and Neisseria gonorrhoeae by Transcription-Mediated Amplification (TMA)
0060243 Chlamydia trachomatis by Transcription-Mediated Amplification (TMA)
0020031 Cholesterol, Serum or Plasma
2002292 Chromosome Analysis, Bone Marrow
2002290 Chromosome Analysis, Leukemic Blood
2002289 Chromosome Analysis, Peripheral Blood
2002288 Chromosome Analysis, Products of Conception
2005762 Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray
2002298 Chromosome FISH, Interphase Please specify which FISH probe you wish to order.
2002299 Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13)
2002299 Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13)
2002297 Chromosome FISH, Prenatal (13, 18, 21, X, & Y—Amniotic Fluid)
0092312 Cocaine and Metabolites - Confirmation/Quantitation - Meconium
0050198 Complement Activity Enzyme Immunoassay, Total
0020408 Comprehensive Metabolic Panel
2002029 Congenital Adrenal Hyperplasia Treatment Panel
0051668 Connective Tissue Diseases Profile
0051374 Connexin 26 (GJB2) Sequencing
0020596 Copper, Serum Free (Direct)
0097222 Cortisol Urine Free by LC-MS/MS
0092100 Cortisol/Cortisone Urine Free by LC-MS/MS
2002932 Coxsackie A Antibodies (A-2, 4, 7, 9, 10 & 16 Serotypes)
0050503 Coxsackie A9 Virus Antibodies by CF
0060055 Coxsackie B Virus Antibodies
2002328 Creatine Disorders Panel, Plasma or Serum Additional Technical Information
2002333 Creatine Disorders Panel, Urine Additional Technical Information
0020474 Creatinine Clearance, Urine
0020025 Creatinine, Serum or Plasma
2001613 Crohn Disease Prognostic Panel May aid in prognostication of confirmed Crohn disease (CD). May also be useful in the diagnosis of CD.
0060045 Cryptosporidium Antigen by EIA
0090060 Cyanide
0055256 Cyclic Citrullinated Peptide (CCP) Antibody, IgG
0070035 Cyclosporine A by Tandem Mass Spectrometry
0058902 Cyclosporine A, C2 by Tandem Mass Spectrometry
0095229 Cystatin C, Serum
0051110 Cystic Fibrosis (CFTR) Sequencing
2013661 Cystic Fibrosis (CFTR), 165 Pathogenic Variants
2013662 Cystic Fibrosis (CFTR), 165 Pathogenic Variants, Fetal
2013663 Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing
2013664 Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing and Reflex to Deletion/Duplication
0060130 Cystic Respiratory Culture
0081106 Cystine Quantitative, Urine
0081105 Cystinuria Panel
2013098 Cytochrome P450 Genotype Panel
2003414 Cytogenomic SNP Microarray
2006267 Cytogenomic SNP Microarray Buccal Swab
2002366 Cytogenomic SNP Microarray—Fetal
0050622 Cytomegalovirus Antibodies, IgG and IgM
2004760 Cytomegalovirus Antiviral Drug Resistance by Sequencing
0060040 Cytomegalovirus by PCR
0060031 Cytomegalovirus by PCR, Whole Blood or Bone Marrow
2008555 Cytomegalovirus by Qualitative PCR, Saliva
0065004 Cytomegalovirus Rapid Culture
0051813 Cytomegalovirus, Quantitative PCR
0050779 Diphtheria, Tetanus, and H. Influenzae b Antibodies, IgG
0013008 Direct Coombs (Anti-Human Globulin)
2002247 Disaccharidase, Tissue
2006621 Drug Detection Panel by High-Resolution Time-of-Flight Mass Spectrometry, Umbilical Cord Tissue
0092310 Drugs of Abuse Confirmation/Quantitation - Amphetamines (Amphetamine & Methamphetamine) - Meconium
0092316 Drugs of Abuse Confirmation/Quantitation - Cannabinoids (Marijuana) - Meconium
0092313 Drugs of Abuse Confirmation/Quantitation - Methadone & Metabolite - Meconium
0092314 Drugs of Abuse Confirmation/Quantitation - Opiates - Meconium
0092516 Drugs of Abuse Panel, Meconium - Screen with Reflex to Confirmation/Quantitation
0060047 E. coli Shiga-like Toxin by EIA
0060053 Echovirus Antibodies
2002440 EGFR Mutation Detection by Pyrosequencing Additional Technical Information
2005559 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication
0080351 Ehlers-Danlos Syndrome Type VI Screen, Urine
0050249 Enterovirus Detection by RT-PCR
0050600 Epstein-Barr Virus Antibody Panel I
0050602 Epstein-Barr Virus Antibody Panel II
Epstein-Barr Virus Antibody Testing
0050246 Epstein-Barr Virus by PCR
0020610 Erythrocyte Porphyrin, Whole Blood
0093247 Estradiol, Males, Children, or Postmenopausal Females, by Tandem Mass Spectrometry
0093248 Estrogens, Serum Fractionated by LC-MS/MS
0093249 Estrone, by Tandem Mass Spectrometry
0090415 Ethosuximide
0090110 Ethylene Glycol
0092118 Everolimus by Tandem Mass Spectrometry Additional Technical Information
0051220 Ewing Sarcoma by RT-PCR Additional Technical Information
2007225 EWSR1 (22q12) Gene Rearrangement by FISH Additional Technical Information
2008800 Expanded Hearing Loss Panel, Sequencing (56 Genes)
2008803 Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes)
0060142 Eye Culture
0055356 F-Actin and Mitochondrial M2 Antibodies, IgG by ELISA with Reflex to Smooth Muscle Antibody (SMA), IgG by IFA
0030007 Factor II, Activity (Prothrombin)
0030100 Factor IX, Activity
0097720 Factor V Leiden (F5) R506Q Mutation
0030075 Factor V, Activity
0030080 Factor VII, Activity
0030095 Factor VIII, Activity
0030105 Factor X, Activity
0030110 Factor XI, Activity
0030115 Factor XII, Activity
2003220 Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians)
2002819 Factor XIII, Qualitative with Reflex to Factor XIII 1:1 Mix
2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations
2002658 Familial Mediterranean Fever (MEFV) Sequencing
2001961 Familial Mutation, Targeted Sequencing

The following genes are available:
ACADVL, ACADM, ACVRL1, APC, ASS1, ATP7A, BMPR1A, BMPR2, BTD, CCM1, CCM2, CCM3, CDKL5, CFTR, COL4A5, CYP1B1, ENG, F8, F9, FBN1, G6PD, GALT, GJB2; HBA1, HBA2, HBB, INSR, LMNA, MECP2,MEFV, MEN1, MLH1, MSH2; MSH6, MUTYH, MYH3, NF1, OTC, PLOD1, PMS2; PRSS1, PTEN, PTPN11, RASA1, RET, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SMAD4, SPRED1, SPINK1, SOS1, STK11, TACI, TGFBR1, TGFBR2, UBE3A, VHL, VWF

0051468 Fanconi Anemia Group C, (FANCC), 2 Variants
0094030 Felbamate
2001743 Fetal Hemoglobin Determination for Fetomaternal Hemorrhage
0051752 FG Syndrome, FGS1 (MED12) R961W Mutation
0090003 Flecainide
2005400 FLT3 Mutation Detection by PCR Additional Technical Information
2011806 FLT3 Signal Ratio Mutation Detection by PCR Additional Technical Information
0070055 Follicle Stimulating Hormone, Serum
2002662 Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17
0081296 Galactose-1-Phosphate in Red Blood Cells
0051175 Galactosemia, (GALT) Enzyme Activity & 9 Mutations
2006697 GALT (Galactosemia) Sequencing Additional Technical Information
0051438 Gaucher Disease (GBA), 8 Variants
2005633 Genomic SNP Microarray, Products of Conception
0060048 Giardia Antigen by EIA
0051476 Glaucoma (Primary Congenital), CYP1B1 Sequencing
2008403 Glomerular Basement Membrane Antibody, IgG by Multiplex Bead Assay and IFA
0020725 Glomerular Filtration Rate, Estimated
0020542 Glucose Tolerance Test
0020024 Glucose, Plasma or Serum
0080135 Glucose-6-Phosphate Dehydrogenase Additional Technical Information
2001771 Glutamic Acid Decarboxylase Antibody
2001510 Glutarylcarnitine, Quantitative, Urine
0070080 Growth Hormone, Serum or Plasma
2001992 Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations
2001956 Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions Additional Technical Information
0050613 Hemoglobin (Hb) A2 and F by Column
0070426 Hemoglobin A1C
2005792 Hemoglobin Evaluation Reflexive Cascade
0050610 Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility
2004686 Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations
0050520 Hemoglobin S, Evaluation with Reflex to RBC Solubility
0049020 Hemoglobin, Unstable
2001614 Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication
2001578 Hemophilia B (F9) Sequencing
2012179 Heparin-Induced Thrombocytopenia (HIT) PF4 Antibody, IgG
2012181 Heparin-Induced Thrombocytopenia (HIT) PF4 Antibody, IgG with Reflex to Serotonin Release Assay (Heparin Dependent Platelet Antibody), Unfractionated Heparin
0020597 Hepatitis A Virus Panel Panel is not recommended to diagnose acute hepatitis A virus infection or for assessing immunity. Order hepatitis A virus IgM antibody (0020093) to diagnose acute infection. Order HAV total (0020591) for assessing immunity.
0020457 Hepatitis Panel, Acute with Reflex to HBsAg Confirmation
Hepatitis Virus Testing
0055656 Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C)
2009008 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication
0051152 Herpes Simplex Type 1 & Type 2 Glycoprotein G-Specific Antibodies, IgG by ELISA (HerpeSelect®)
0060041 Herpes Simplex Virus by PCR
Herpes Simplex Virus Type 1 and/or 2 Antibody Testing
2007697 Heterophile Antibody (Infectious Mononucleosis) by Latex Agglutination with Reflex to Titer
0050385 Heterophile Antibody (Infectious Mononucleosis) by Latex Agglutination, Qualitative
2001763 Hirsutism Evaluation Panel
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information
0099869 Homocysteine, Total
0080413 Homocystine, Quantitative, Urine
0080422 Homovanillic Acid (HVA), Urine
0093061 Human Immunodeficiency Virus 1 DNA PCR, Qualitative
0055598 Human Immunodeficiency Virus 1 RNA Quantitative Real-Time PCR
0055670 Human Immunodeficiency Virus 1, Genotyping
2005375 Human Immunodeficiency Virus Type 1 (HIV-1) Antibody with Reflex to Human Immunodeficiency Virus Type 1 (HIV-1) Antibody Confirmation by Western Blot
0051367 Hypochondroplasia (FGFR3) 2 Mutations
0050202 IA-2 Antibody
0070060 IGF Binding Protein-3
0070125 IGF-1 (Insulin-Like Growth Factor 1)
0050345 Immunoglobulin E
0050577 Immunoglobulin G Subclasses (1, 2, 3, and 4)
0050630 Immunoglobulins (IgA, IgG, IgM), Quantitative Additional Technical Information
2007535 Infantile-Onset Epilepsy Panel, Sequencing and Deletion/Duplication Additional Technical Information
0050567 Inflammatory Bowel Disease Differentiation Profile Preferred test for differentiating Crohn disease from ulcerative colitis in inflammatory bowel disease.
2008320 Infliximab Activity and Neutralizing Antibody
2007469 Influenza A Virus H1/H3 Subtyping by Real-Time RT-PCR
0060284 Influenza Virus A & B DFA with Reflex to Influenza Virus A & B Rapid Culture
0099228 Insulin Antibody
0080860 Insulin Binding, Fibroblasts
0050138 Islet Cell Cytoplasmic Antibody, IgG
2004988 Juvenile Polyposis (BMPR1A) Sequencing
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication
2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication
0051510 Juvenile Polyposis (SMAD4) Sequencing
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication
2004984 Juvenile Polyposis Syndrome (BMPR1A) Deletion/Duplication
2009306 Kabuki Syndrome (KMT2D) Sequencing
0051644 Kell K/k Antigen (KEL) Genotyping
0098627 Keppra (Levetiracetam)
2002437 KIT Mutations in AML by Fragment Analysis and Sequencing Additional Technical Information
2003182 Lacosamide, (Vimpat) Serum Additional Technical Information
0061164 Lactoferrin, Fecal by ELISA
0020407 Lactose Tolerance
0080940 Lamellar Body Counts
0020745 Lead, Blood (Capillary)
2002945 Legius Syndrome (SPRED1) Sequencing and (NF1) Sequencing Exon 22 (Exon 17)
0096299 Leukemia/Lymphoma Phenotyping (Comprehensive—Whole Blood)
2004359 Leukocyte Adhesion Deficiency Panel
0020421 Lipid Panel
2004539 LMNA-Related Disorders (LMNA) Deletion/Duplication
2004543 LMNA-Related Disorders (LMNA) Sequencing
2007567 Luteinizing Hormone (LH), Pediatric
0070093 Luteinizing Hormone, Serum
0096056 Lymphocyte Antigen and Mitogen Proliferation Panel
0051584 Lymphocyte Antigen and Mitogen Proliferation Panel with Cytokine Response to Mitogens
0095899 Lymphocyte—Congenital Immunodeficiencies
0095892 Lymphocyte—Total Lymphocyte Enumeration
0081293 Maternal Screening, Sequential, Specimen #1
0081150 Maternal Serum Screen, First Trimester Additional Technical Information
Maternal Serum Screening
0081062 Maternal Serum Screening, Integrated, Specimen #1 Additional Technical Information
0081064 Maternal Serum Screening, Integrated, Specimen #2 Additional Technical Information
0050375 Measles (Rubeola) Antibodies, IgG and IgM
0065055 Measles (Rubeola) Virus Culture
0051205 Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations
0051758 Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing Additional Technical Information
0091084 Mercaptopurine Quantitation, Serum or Plasma
0025050 Mercury, Urine
2008831 Metabolic Storage Disorders Panel, Sequencing, 51 Genes
0050184 Metanephrines, Plasma (Free)
2008591 Methylenedioxypyrovalerone (MDPV) Quantitative, Urine
0050203 Microalbumin, Urine
2006065 Mitochondrial Disorders (mtDNA) Sequencing
0051755 Molar Pregnancy, 16 DNA Markers
0081352 Mucopolysaccharides Electrophoresis and Quantitation, Urine
0081357 Mucopolysaccharides, Quantitative, Urine
2007496 Mucopolysaccharidosis Type 1, NRE (Sensi-Pro) Quantitative, Serum or Plasma
2007599 Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma
2007488 Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Urine
2005360 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication
0051390 Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing
Mumps Virus Antibody Testing
0099589 Mumps Virus Antibody, IgM
0065056 Mumps Virus Culture
2009387 Mumps Virus RNA Qualitative, Real-Time PCR
2004911 MUTYH-Associated Polyposis (MUTYH) 2 Mutations
2007227 MYCN (N-MYC) Gene Amplification by FISH Additional Technical Information
0090213 Mycophenolic Acid
0060256 Mycoplasma pneumoniae by PCR
0060244 Neisseria gonorrhoeae by Transcription-Mediated Amplification (TMA)
2001952 Neurofibromatosis Type 1 (NF1) Deletion/Duplication Additional Technical Information
0096657 Neutrophil Oxidative Burst Assay (DHR)
2007537 Non-Invasive Prenatal Testing for Fetal Aneuploidy
2010232 Non-Invasive Prenatal Testing for Fetal Aneuploidy (Panorama) with Microdeletions
2013142 Non-Invasive Prenatal Testing for Fetal Aneuploidy with 22q11.2 Microdeletion (Panorama) Additional Technical Information
2009077 Non-Invasive Prenatal testing for RhD Genotyping, Fetal
0051805 Noonan Syndrome (PTPN11) Sequencing
2004189 Noonan Syndrome (PTPN11) Sequencing with Reflex to (SOS1) Sequencing
2004195 Noonan Syndrome (SOS1) Sequencing
0051281 Norovirus Group 1 and 2 Detection by RT-PCR
0099289 Organic Acids, Plasma
0098389 Organic Acids, Urine
2004896 Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication
0092458 Orotic Acid and Orotidine, Urine
2002257 Osmotic Fragility, Erythrocyte
0020482 Oxalate, Urine
0098834 Oxcarbazepine Metabolite
2002984 Oxygen Dissociation (P50) by Hemoximetry
2006247 Parainfluenza 1-4 by RT-PCR
0050596 Parietal Cell Antibody, IgG
2005006 Paroxysmal Nocturnal Hemoglobinuria Panel, RBC and WBC Additional Technical Information
2004366 Paroxysmal Nocturnal Hemoglobinuria, High Sensitivity, RBC Additional Technical Information
PNH testing with Flaer by flow cytometry may be a better test to evaluate for PNH
2005003 Paroxysmal Nocturnal Hemoglobinuria, WBC Additional Technical Information
0065120 Parvovirus B 19 Antibodies, IgG and IgM
0060043 Parvovirus B 19, by PCR
0040113 PAX-FKHR Translocation by RT-PCR Additional Technical Information
0092315 Phencyclidine (PCP) - Confirmation/Quantitation - Meconium
0090230 Phenobarbital
0080336 Phenylalanine and Tyrosine, Plasma (monitoring only)
0080315 Phenylalanine Monitoring, Plasma (monitoring only)
0090141 Phenytoin, Free and Total
0060051 Pinworm
2007406 Pipecolic Acid, Serum or Plasma
2004980 Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping
0030160 Platelet Aggregation Studies
0051718 Platelet Antibodies, Indirect with Reflex to Identification
0051308 Platelet Antigen Genotyping Panel
2002058 Porphyrins, Fractionation and Quantitation, Urine
2002554 Pregabalin. Referral to NMS
0092334 Pregnenolone by LC-MS/MS, Serum or Plasma
0099043 Prekallikrein Factor, Activity
2008704 Prenatal Carrier Screening Next Generation Sequencing, 85 Disorders with Fragile X Disorder List
Additional Technical Information
2007541 Prenatal Carrier Screening Targeted Mutation Panel, 85 Disorders with Fragile X Disorder List
Additional Technical Information
0090202 Primidone and Metabolite
0050083 proBrain Natriuretic Peptide, NT
0070115 Prolactin, Serum or Plasma
0030182 Protein C and S Panel, Functional
0030116 Protein C and S Panel, Total, Antigen
0030113 Protein C, Functional
2003386 Protein C, Functional with Reflex to Protein C, Total and Protein S, Free with Reflex to Protein S, Total
0098894 Protein S Free, Antigen
0030114 Protein S, Functional
0030112 Protein S, Total Antigen
0020029 Protein, Total, Serum or Plasma
0020479 Protein, Total, Urine
0056060 Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II)
2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication
2003405 Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication
0080342 Pyridinoline and Deoxypyridinoline by HPLC, Urine
0080269 Quad Screen Alpha Fetoprotein, hCG, Estriol, and Inhibin A
2002730 RASA1-Related Disorders (RASA1) Sequencing
0020144 Renal Function Panel
Renal Pathology Special Studies Staining protocols for renal biopsies include:
  • Light microscopy: H&E, PAS, trichrome stain, and Jones silver stain, Congo red stain performed if indicated
  • Immunofluorescence: IgG, IgA, IgM, C1q, C3, albumin, fibrinogen, kappa and lambda, and C4d (transplant)
  • Electron microscopy: routinely performed
0060288 Respiratory Syncytial Virus DFA
2007805 Respiratory Virus Panel by PCR
0060289 Respiratory Viruses DFA
0051618 Rett Syndrome (MECP2), Deletion/Duplication Additional Technical Information
0051614 Rett Syndrome (MECP2), Full Gene Analysis
0051368 Rh Genotyping D Antigen (RhD positive/negative and RhD copy number)
0050421 RhCc Antigen (RHCE) Genotyping
0051368 RhD Antigen (RhD) Genotyping
0050423 RhEe Antigen (RHCE) Genotyping
2003277 Rheumatoid Arthritis Panel
2003278 Rheumatoid Arthritis Panel with Reflex to Rheumatoid Factor, IgM, IgG, and IgA by EIA
0050552 Rubella Antibodies, IgG and IgM
2003176 Rufinamide, Serum or Plasma Additional Technical Information
0050564 Saccharomyces cerevisiae Antibodies, IgG & IgA
0040325 Sedimentation Rate, Westergren (ESR)
2005631 Serotonin-Release Assay (Heparin-Dependent Platelet Antibody), Unfractionated Heparin
2010219 Severe Combined Immunodeficiency (SCID) Panel, Sequencing and Deletion/Duplication, 19 Genes
0099375 Sex Hormone Binding Globulin, Serum or Plasma
0098467 Sirolimus by Tandem Mass Spectrometry
2011457 Smith-Lemli-Opitz Syndrome (DHCR7) Sequencing
2011704 Smith-Lemli-Opitz Syndrome (DHCR7) Sequencing, Fetal
0060134 Stool Culture and E. coli Shiga-like Toxin by EIA
0028903 Streptococcus (Group A) Rapid with Reflex to Culture
0060705 Streptococcus Group B by PCR
0050725 Streptococcus pneumoniae Antibodies, IgG (14 serotypes)
2007401 Succinylacetone, Quantitative, Urine
0040114 SYT-SSX t(X;18) Translocations by RT-PCR Additional Technical Information
0090612 Tacrolimus by Tandem Mass Spectrometry
2009298 Tay-Sachs Disease (HEXA) Sequencing and 7.6kb Deletion
0051428 Tay-Sachs Disease (HEXA), 7 Variants
0081059 Testosterone Free, Females or Children
0081057 Testosterone, Bioavailable & Sex Hormone Binding Globulin (Includes Total Testosterone), Females or Children
0081058 Testosterone, Females or Children
0081056 Testosterone, Free and Total (Includes SHBG), Females or Children by LC-MS/MS
0025019 Thallium, Urine
0099610 Thallium, Whole Blood
0051506 Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations
0092066 Thiopurine Methyltransferase, RBC Additional Technical Information
0056200 Thrombotic Risk, DNA Panel (FVL, Factor II, MTHFR)
0030133 Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V Leiden
0030177 Thrombotic Risk, Inherited Etiologies (uncommon)
2006550 Thyroglobulin by LC-MS/MS, Serum or Plasma
0050075 Thyroid Peroxidase (TPO) Antibody
2002734 Thyroid Stimulating Hormone Receptor Antibody (TRAb)
0070145 Thyroid Stimulating Hormone, Serum or Plasma
0099430 Thyroid Stimulating Immunoglobulin
0093244 Thyroxine, Free by Equilibrium Dialysis/HPLC-MS/MS
0051589 Toll-Like Receptor Function Assay Additional Technical Information
0050772 TORCH Antibodies, IgG
0050665 TORCH Antibodies, IgM
0050521 Toxoplasma gondii Antibodies, IgG and IgM
0050921 Treponema pallidum Antibody, IgM by ELISA
0020040 Triglycerides, Serum or Plasma
0093243 Triiodothyronine, Free by Equilibrium Dialysis/HPLC-MS/MS
0050547 Twin Zygosity (16 markers)
0080355 Tyrosine, Plasma
0020023 Urea Nitrogen, Serum or Plasma
0020350 Urinalysis, Complete
0099310 Valproic Acid, Free and Total
0080470 Vanillylmandelic Acid (VMA) & Homovanillic Acid (HVA), Urine
0080421 Vanillylmandelic Acid (VMA), Urine
0050162 Varicella-Zoster Virus Antibodies, IgG and IgM
0060042 Varicella-Zoster Virus by PCR
0060282 Varicella-Zoster Virus DFA with Reflex to Varicella-Zoster Virus Culture
2007380 Vascular Malformations Deletion/Duplication, 14 Genes
2007384 Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes
2007390 Vascular Malformations Sequencing, 14 Genes
2002001 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing Additional Technical Information
2004250 Very Long-Chain and Branched-Chain Fatty Acids Profile
2002028 Virilization Panel 1
2002281 Virilization Panel 2
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication
0030002 von Willebrand Multimeric Panel
0030125 von Willebrand Panel
0050228 West Nile Virus Antibodies, IgG and IgM by ELISA, CSF
0050226 West Nile Virus Antibodies, IgG and IgM by ELISA, Serum
0050229 West Nile Virus RNA by RT-PCR
2004434 X Chromosome Ultra-High Density Microarray, 954 Genes
2006352 X-Chromosome Inactivation Analysis Additional Technical Information
2010225 X-Linked Intellectual Disability Panel, Sequencing, 76 Genes
0020612 Xylose Absorption Test (child)
2001778 Y Chromosome Microdeletion
2006196 Zinc Transporter 8 Antibody
0020462 Zinc, Urine
0097908 Zonisamide