Laboratory Test Directory

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#

• 1,5-Anhydroglucitol (GlycoMark^®)
• 17-Hydroxyprogesterone Analysis in Serum by LC-MS/MS
• 1p/19q Deletion by FISH
• 21-Hydroxylase Antibody
• 25-Hydroxyvitamin D2 and D3 in Serum by LC-MSMS
• 5-Fluorouracil Sensitivity (DPYD, TYMS, and MTHFR), 8 Mutations

A

• Acetylcholine Receptor Antibody Testing
• Achondroplasia (FGFR3) 2 Mutations
• Acute Myeloid Leukemia (AML) Panel by FISH
• Adiponectin
• Adrenal Steroids Panel
• AFP-L3 Percent in Serum (Includes Total Alpha-Fetoprotein)
• Aggressive Lymphoma Panel by FISH
• Alpha-1-Antitrypsin Deficiency, Genotyping
• Alpha Thalassemia HBA1 and HBA2 Common Gene Deletions or Sequencing
• Alport Syndrome, Adult Type (COL4A5) 3 Mutations
• Alport Syndrome, X-Linked (COL4A5) Sequencing
• Alternative Complement Activation Pathway Functional Assay
• AML with MDS or Therapy-Related MDS Panel by FISH
• Androstenedione and Dehydroepiandrosterone in Serum by LC-MS/MS
• Angelman Syndrome: Methylation
• Angelman Syndrome: Methylation or UBE3A Sequencing
• Ankylosing Spondylitis (HLA-B27) Genotyping
• Anti-Actin IgA in Celiac Disease
• Anti-Endomysial Antibody (EMA) IgG by Indirect Immunofluorescence Antibody (IFA) Assay
• Anti-MAG and Anti-SGPG, IgM
• Anti-Mullerian Hormone
• Anti-NMDA Receptor (NR1) IgG Antibodies
• Antiphospholipid Syndrome (APS) Testing
• Apolipoprotein B (APOB) 2 Mutations
• Apolipoprotein E (APOE) 2 Mutations, Cardiovascular Risk
• Aquaporin-4 Autoantibody Testing
• Arsenic Fractionation
• Ashkenazi Jewish Diseases

B

• Bartonella DNA Detection by PCR
• BCR-ABL Kinase Domain Mutation Analysis
• BCR-ABL1, Major ( p210) Quantitative
• BCR-ABL1, Minor (p190) Quantitative
• BCR-ABL1, T315I Mutation
• Beta-2-Adrenergic Receptor (ADRB2) Haplotyping
• Beta Globin (HBB) HbS, HbC, and HbE Mutations
• Beta Globin (HBB) Sequencing
• Bile Acids, Fractionated and Total
• Bilirubin, Cerebrospinal Fluid
• Biotinidase Deficiency (BTD)
• Bleeding Disorders
• Blood Group Microarray, Nine Blood Groups
• Bordetella pertussis Antibodies by Immunoblot
• Bordetella pertussis Antibodies, IgA, IgG, & IgM
• BRAF Mutation Detection
• BRAF V600E Mutation and MLH1 Promoter Methylation Detection in Colon Cancer

C

• Calprotectin (CALPRO), Fecal
• Carbohydrate-Deficient Transferrin (CDT) for Alcohol Use
• CDKL5-Related Disorders Sequencing and Deletion/ Duplication
• CEBPA Mutation Detection
• Celiac Disease Dual Antigen Screen
• Celiac Disease (HLA-DQA and HLA-DQB) Genotyping
• Cerebral Cavernous Malformation (CCM1, CCM2, and CCM3)
• Chimerism by STR Genotyping
• Chromatin ELISA
• Chromium and Cobalt in Joint Fluid
• Chromosome Analysis—Breakage, Ataxia Telangiectasia, Whole Blood
• Chromosome Breakage Analysis—Fanconi Anemia
• Chronic Lymphocytic Leukemia
• Chronic Lymphocytic Leukemia Follow Up Phenotyping by Flow Cytometry
• Circulating Tumor Cell (CTC) Count
• Clostridium difficile toxin B gene (tcdB) by PCR
• Complement Factor Bb
• Creatine Deficiency Syndromes
• Cross-Linked C-Telopeptides in Serum
• Cryoglobulin, Qualitative with Reflex to IFE Typing and Quantitative IgA, IgG, and IgM
• Cystic Fibrosis Cis-Trans (CFTR)R117H & 5T Mutations
• Cystic Fibrosis (CFTR) 3199del6 Mutation
• Cystic Fibrosis (CFTR) 32 Mutations
• Cystic Fibrosis (CFTR) 32 Mutations, Atypical
• Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing and Deletion/Duplication
• Cytochrome P450 2C9 (CYP2C9) 2 Mutations
• Cytochrome P450 2C19 (CYP2C19) 9 Mutations
• Cytochrome P450 2D6 (CYP2D6)14 Mutations & Gene Duplication
• Cytochrome P450 2D6 Genotyping to Predict Metabolic Activation of Tamoxifen
• Cytogenomic SNP Microarray (CMASNP)
• Cytokeratin 19 Fragment (CYFRA 21-1) Serum

D

• DDIT3 (CHOP) (12q13) Gene Rearrangement by FISH
• deCODE ProstateCancer™ Genetic Risk Assessment
• Dengue Fever Virus Antibodies, IgG and IgM
• Des-gamma-carboxy Prothrombin
• Desmoglein 1 and Desmoglein 3 IgG Antibodies in Serum
• Detection of Amphiphysin IgG Antibodies
• Detection of ETV6-RUNX1 in Acute Lymphoblastic Leukemia
• Disaccharidase, Tissue
• Drugs of Abuse, Opiates and Related Drugs

E

• E2A-PBX1 t(1 19) Translocation by RT-PCR and Fluorescence Monitoring
• EGFR Gene Amplification by FISH
• EGFR Mutations Detection by PCR and Fragment Analysis
• Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication
• EML4-ALK Translocations by RT-PCR
• Eosinophil Granule Major Basic Protein in Tissues
• Eosinophilia Panel by FISH
• Epithelial Skin Antibody
• ERRB2 (HER-2/neu) Gene Amplification by FISH
• Estradiol and Estrone in Serum by LC-MS-MS
• Everolimus (Afinitor®)
• Everolimus (Zortress®)
• Ewing Sarcoma Family of Tumors
• EWSR1 Gene Rearrangement by FISH

F

• F-Actin (Smooth Muscle) IgG by Enzyme Immunoassay
• Factor II (F2) G20210A Mutation
• Factor V Leiden (F5) R506Q Mutation
• Factor V R2 A4070G Mutation
• Factor XIII (F13A1) V34L Variant
• Familial Mediterranean Fever (MEFV) Sequencing
• Familial Adenomatous Polyposis, APC Sequencing and Deletion-Duplication, and
  MUTYH (MYH) 2 Mutations
• Febrile Antibodies Panel
• FG Syndrome (MED12) R961W Mutation
• FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH
• FOXL2 Mutation Detection by Pyrosequencing
• Fragile X (FMR1) Mutation
• Francisella tularensis Antibodies by ELISA, IgG, and IgM
• Free Cortisol and Cortisone in Urine
• Freeman-Sheldon Syndrome (MYH3) Sequencing, Exon 17

G

• Galactosemia Panel
• Galactosemia Sequencing
• Gastrointestinal Stromal Tumors (GISTS), Mutation Detection
• Genomic SNP Microarray, Products of Conception (ARRAY POC)
• Glaucoma (Primary Congenital), CYP1B1 Sequencing
• Glucose-6-Phosphate Dehydrogenase (G6PD) DNA Mutation
• Glutarylcarnitine Quantitation for Glutaric Acidemia Type I

H

• Haptoglobin (HP) Genotyping
• Hearing Loss Panel, Nonsyndromic (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial 2 Mutations
• Helicobacter pylori Breath Test
• Hemochromatosis (HFE) 3 Mutations
• Hemoglobin Evaluation Reflexive Cascade
• Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations
• Hemophilia A (F8) Inversion, Sequencing, and Deletion/ Duplication
• Hemophilia B (F9) Sequencing
• Hepatitis C Virus (HCV) RNA Quantitative Real-time PCR
• HER-2 Gene Amplification in Breast Cancer by Monoplex PCR
• HER-2 CISH
• HER-2/neu Gene Amplification by FISH
• HER-2/neu, Serum
• Hereditary Hemorrhagic Telangiectasia (ENG and ACVRL1) Sequencing
• Hereditary Persistence of Fetal Hemoglobin (HPFH) 8 Mutations
• HLA-B*5701 Genotyping, Abacavir Sensitivity
• HNPCC/ Lynch Syndrome, Microsatellite Instability by PCR
• Human Epididymis Protein 4 (HE4)
• Human Immunodeficiency Virus 1 RNA Quantitative Real-time PCR
• Human Leptin
• Human Metapneumovirus by Real-Time RT-PCR
• Human Metapneumovirus (hMPV) Detection by DFA
• Human Papillomavirus (HPV) Genotyping
• Huntington Disease (HD)
• Hyaluronic Acid
• Hypertrophic Cardiomyopathy Resequencing Array
• Hypochondroplasia (FGFR3) 2 Mutations

I

• IBD Prognostic Panel
• Idiopathic and Hereditary Pancreatitis
• IgG Anti-PM/Scl-100
• IgG Anti-RNA Polymerase III
• IGH-BCL2 Fusion, t(14;18) by FISH
• IGH-CCND1 Fusion, t(11;14) by FISH
• IGH-MYC Fusion, t(8;14) Rearrangement by FISH
• Ig VH Gene Analysis for Chronic Lymphocytic Leukemia Prognosis
• Immunosuppressants by Tandem Mass Spectrometry
• Inflammatory Bowel Disease
• Inhibin B
• Interferon Beta Neutralizing Antibody with Reflex to Titer
• Interleukin-1-Receptor-Associated Kinase-4 (IRAK-4)
• Interleukin 28 B (IL28B)-Associated Variants, 2 SNPs
• Intraepidermal Nerve Fiber Density Analysis
• inv(16) for AML(CBFB-MYH11) by RT-PCR

J

• JAK2 (V617F) Mutation by PCR
• JAK2 c.1849G-T (V617F) Mutation Quantification by Real-Time PCR
• JAK2 Exon 12 Mutation by PCR
• Juvenile Polyposis: (SMAD4) Sequencing and Deletion/Duplication, (BMPR1A) Sequencing and Deletion/ Duplication

K

• Kell Antigen Genotyping (KEL1-KEL2)
• KIT (D816V) Mutation by PCR
• KIT Exon 8 and 17 Mutations in Acute Myeloid Leukemia
• KIT Mutations Analysis in Melanoma
• KRAS Mutation Detection in Colorectal Cancer

L

• Legius Syndrome (SPRED1) Sequencing & (NF1) Sequencing Exon 22 (Exon 17)
• Lipoprotein-Associated Phospholipase A2 (PLACTM)
• LMNA-Related Disorders (LMNA) Deletion/Duplication
• LMNA-Related Disorders (LMNA) Sequencing
• Loeys-Dietz Syndrome (TGFBR1 and TGFBR2) Sequencing and Deletion Duplication
• Lyme Disease
• Lymphocytic Choriomeningitis (LCM) Virus by IFA
• Lynch Syndrome/Hereditary Nonpolyposis Colorectal Cancer
  (MLH1, MSH2, MSH6, and PMS2) Sequencing and Deletion/ Duplication

M

• Macular Degeneration, Age-Related
• Malaria Antibodies, IgG by ELISA
• Marfan Syndrome (FBN1) Sequencing and Deletion/ Duplication
• Maternal Screening, Sequential
• Maternal Serum Screen, First Trimester
• Maternal Serum Screening, Integrated Test
• Maternal Serum Screening, Quadruple
• MDM2 Gene Amplification by FISH
• Medium Chain Acyl-CoA Dehydrogenase (MCAD)
• Methylenetetrahydrofolate Reductase (MTHFR) Mutation Detection
• Microarray, Genomic, Fetal
• Microsporidia Stain by DFA
• Mitochondrial Genome Mutation Scanning
• MPL W515 Quantitative Mutation Analysis
• Mucopolysaccharides, Screen and Quantitation
• Multiple Myeloma (MM) by FISH
• Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication
• Multiple Endocrine Neoplasia Type 2
• Mutation Detection in Gastrointestinal Stromal Tumors (GISTs)
• MYC (8q24) Gene Rearrangement by FISH
• MYCN (N-MYC) Gene Amplification by FISH
• Mycobacteria Identification and Susceptibility Testing
• Mycobacterium Tuberculosis Complex Speciation
• Mycobacterium Tuberculosis IgG Antibody Detection by ELISA
• Myeloproliferative Neoplasms (MPN) Panel by FISH

N

• Narcolepsy (HLA-DQB1) Genotyping
• Neoplastic Mature T-Cell Evaluation by Flow Cytometry
• Neopterin
• Neurofibromatosis Type 1 (NF1) Deletion/Duplication
• Nicotine and Related Compounds in Urine and SerumPlasma
• NMR LipoProfile Test
• Noonan Syndrome, PTPN11 Sequencing
• Noonan Syndrome, PTPN11 Sequencing with Reflex to SOS1 Sequencing
• Norovirus by RT-PCR
• NPM1 Mutations in Acute Myelogenous Leukemia
• NRAS Mutation Detection in Melanoma and Colorectal Cancer

O

• Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion-Duplication
• Outer Membrane Proteins (OMP), IgA
• Oxygen Dissociation, P50

P

• Pam50 Breast Cancer Intrinsic Classifier
• Paroxysmal Nocturnal Hemoglobinuria Panel
• PATHWAY® HER-2/neu (4B5)
• PAX-FKHR Translocations by RT-PCR
• PCA3—Prostate Cancer Biomarker
• Pemphigus Panel
• PIK3CA Mutation Detection by Pyrosequencing
• Plasminogen Activator Inhibitor-1, PAI-1(SERPINE1) Genotype
• Platelet Antigen (HPA1, HPA2, HPA3, HPA4, HPA5, HPA6, and HPA15) Genotyping
• PML-RARa t(15;17) Translocation by RT-PCR
• Polycythemia, Congenital (VHL) Sequencing
• Prader-Willi Syndrome
• PreDx™ Diabetes Risk Profile
• Primary Carnitine Deficiency (SLC22A5) Sequencing and Deletion/Duplication
• Primary Carnitine Deficiency (SLC22A5) Full Gene Sequencing
• Procalcitonin (PCT)
• Procollagen Type 1 N-Terminal Propeptide
• Prolactin Macroadenoma
• Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication
• PTEN-Related Disorders, Sequencing and Deletion/Duplication

Q

• QuantiFERON^®-TB Gold In-Tube Method
• QuantiFERON^®-TB Gold In-Tube and Mycobacterium tuberculosis Antibody, IgG by ELISA

R

• Rabies IgG Antibody Detection by ELISA
• RASA1 Sequencing
• Recurrent Genetic Abnormalities in Adult B-Cell Acute Lymphoblastic
• Recurrent Genetic Abnormalities in Pediatric B-Cell Acute Lymphoblastic
• Rett Syndrome (MECP2) Sequencing and Deletion/ Duplication
• RhD Antigen (RHD) Genotyping
• RhEe and RhCc Antigen (RHCE) Genotyping

S

• S-100B Protein, Serum (for Acquired Brain Injury)
• S-100B Protein, Serum (for Melanoma)
• Salivary Cortisol
• Schistosoma IgG Antibody Detection by ELISA
• Septin 9 (SEPT9) Methylated DNA Detection by Real-Time PCR
• Serological Testing for Chlamydophila pneumoniae, Chlamydophila psittaci, and Chlamydia trachomatis infections by IFA
• Soluble CD30, Fluorescent Immunoassay
• Soluble Mesothelin-Related Peptides (MESOMARK®)
• Specimen Identity Testing
• Squamous Cell Carcinoma Antigen
• SS18 (SYT) Gene Rearrangement by FISH
• ST2, Soluble
• Strongyloides Antibody Detection by ELISA
• Syphilis IgG Antibodies by Immunoblot
• SYT-SSX t(X;18) Translocations by RT-PCR

T

• Targeted Drug Screen Based on LC-MS/TOF
• T-Cell Clonality by Flow Cytometry Analysis of TCR V-Beta
• T. cruzi (Chagas Disease) IgG Antibody Detection by Rapid Test
• Testing for Anti-Gangliosides, IgG and IgM Antibodies
• Thanatophoric Dysplasia, Types 1 & 2 (FGFR3) 13 Mutations
• Thiopurine Methyltransferase, Red Blood Cell
• Thyroid Stimulating Immunoglobulins (TSI) Assay
• Toll-Like Receptor Function (TLR) Assay
• Total Coenzyme Q10 by HPLC, Plasma or Serum
• Trichomonas vaginalis by Amplified Detection

U

• UGT1A1 (TA)n Polymorphisms and Expression of Uridine Diphosphate-Glucuronosyltransferase
• Urine Supersaturation Profile
• UroVysion(TM) FISH

V

• Very Long-Chain Acyl-CoA Dehydrogenase/VLCAD (ACADVL) Sequencing
  and Deletion/Duplication
• Visceral Leishmaniasis Antibody Detection by Rapid Test
• Vitamin D, 1,25-Dihydroxy and Vitamin D
• Vitamin B1 in Whole Blood by HPLC
• Voltage-Gated Calcium Channel Autoantibody Testing
• Voltage-Gated Potassium Channel Autoantibody Testing
• von Hippel-Lindau (VHL)
• von Willebrand Disease, Type 2 (VWF) Sequencing, Selected Exons
  or Platelet-Type von Willebrand Disease (GP1BA), 4 Mutations
• von Willebrand Panel with Reflex to von Willebrand Multimeric Analysis

W

• Warfarin Sensitivity (CYP2C9 & VKORC1) 3 Mutations
• WT1 Mutation Detection by Sequencing

X

• X-Chromosome Ultra High-Density Microarray, 954 Genes

Y

• Y Chromosome Microdeletions
• Yersinia IgG & IgA by Western blot

Z

• ZAP-70 Analysis by Flow Cytometry