PKUBS - Overview: Phenylalanine and Tyrosine, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific cause of hyperphenylalaninemia

TOXB - Overview: Toxoplasma gondii, Molecular Detection, PCR, Blood

Supporting the diagnosis of active toxoplasmosis, particularly in immunocompromised individuals

TXM - Overview: Toxoplasma gondii Antibody, IgM, Serum

Detecting recent infection with Toxoplasma gondii

CPR - Overview: C-Peptide, Serum

Diagnostic workup of hypoglycemia: -Diagnosis of factitious hypoglycemia due to surreptitious administration of insulin -Evaluation of possible insulinoma -Surrogate measure for the absence or presence of physiological suppressibility of...

HSMBS - Overview: Hepatosplenomegaly Panel, Blood Spot

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly, using dried blood spot specimens This test is not useful for the identification of carriers. This test should not be used as a monitoring tool for...

QHV6P - Overview: Human Herpesvirus-6 A and B DNA Detection and Quantification, PCR, Plasma

As an adjunct in the rapid diagnosis of human herpesvirus-6 infection using plasma specimens This test should not be used to screen asymptomatic patients

GPSY - Overview: Glucopsychosine, Blood Spot

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...

MSH2 - Overview: MSH2 Immunostain, Technical Component Only

Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...

MSH6 - Overview: MSH6 Immunostain, Technical Component Only

Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH6 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...

RPDEI - Overview: Rapidly Progressive Dementia Evaluation Interpretation, Spinal Fluid

Interpretation of the Rapidly Progressive Dementia Evaluation

INHAB - Overview: Inhibin A and B, Tumor Marker, Serum

Aiding in the diagnosis of granulosa cell tumors and mucinous epithelial ovarian tumors Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to secrete inhibin A or overexpress inhibin B

HMUOE - Overview: Heavy Metal Occupational Exposure, with Reflex, Random, Urine

Preferred screening test for detection of arsenic, cadmium, mercury, and lead due to occupational exposure using random urine specimens

CATU - Overview: Catecholamine Fractionation, Free, 24 Hour, Urine

An auxiliary test to fractionated plasma and urine metanephrine measurements in the diagnosis of pheochromocytoma and paraganglioma An auxiliary test to urine vanillylmandelic acid and homovanillic acid determination in the diagnosis and...

FHSSE - Overview: Helminthosporium sativum/Drechslera IgE

Helminthosporium sativum/Drechslera IgE

GPSYW - Overview: Glucopsychosine, Blood

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using whole blood specimens Supporting the biochemical diagnosis of...

GPSYP - Overview: Glucopsychosine, Plasma

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using plasma specimens Supporting a biochemical diagnosis of Gaucher...

TXMGP - Overview: Toxoplasma gondii Antibody, IgM and IgG, Serum

Determining whether a patient has had previous exposure to or recent infection with Toxoplasma gondii IgG is not useful for diagnosing infection in infants younger than 6 months of age. IgG antibodies in this age group usually are the...

BADX - Overview: BCR/ABL1, Qualitative, Diagnostic Assay, Varies

Diagnostic workup of patients with a high probability of BCR::ABL1-positive hematopoietic neoplasms, predominantly chronic myeloid leukemia and acute lymphoblastic leukemia

LPCBS - Overview: Lysophosphatidylcholines, LC MS/MS, Blood Spot

Second-tier newborn screen for X-linked adrenoleukodystrophy This test is not intended for metabolic screening of symptomatic patients. This test is supplemental and not intended to replace state mandated newborn screening.

NAT2Q - Overview: N-Acetyltransferase 2 (NAT2) Genotype, Varies

Identifying patients who may be at risk for altered metabolism of drugs that are substrates of arylamine N-acetyltransferase type 2, including isoniazid

STER - Overview: Sterols, Plasma

Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, sitosterolemia, sterol C4 methyl oxidase deficiency, MEND (male EBP disorder with neurologic defects) syndrome,...

EFPO - Overview: Electrolyte and Osmolality Panel, Feces

Workup of cases of chronic diarrhea Diagnosis of factitious diarrhea (where patient adds water to stool to simulate diarrhea)

PMS2 - Overview: PMS2 Immunostain, Technical Component Only

Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including PMS2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...

MFCDF - Overview: Myeloma, High Risk with Reflex Probes, Diagnostic FISH Evaluation, Fixed Cell Pellet

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using a fixed cell pellet derived from bone marrow Identifying prognostic markers based on the abnormalities found This test should...

MPCDS - Overview: mSMART, Plasma Cell Proliferative Disorder, FISH, Bone Marrow

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders as a part of a profile Identifying prognostic markers based on the anomalies found

PCPDS - Overview: Plasma Cell Proliferative Disorder, High Risk with Reflex Probes, Diagnostic FISH Evaluation, Bone Marrow

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using bone marrow specimens Identifying prognostic markers based on the abnormalities found This test should not be used to track the...

CRMP1 - Overview: Cardiovascular Risk Marker Panel, Serum

Assessment for risk of developing cardiovascular disease, major adverse cardiovascular events, or ischemic cerebrovascular events

PKUSC - Overview: Phenylalanine and Tyrosine, Self-Collect, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia in a patient-collected specimen This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific...

SERPZ - Overview: SERPINA1 Gene, Full Gene Analysis, Varies

Identification of causative mutations when a deficient serum level of alpha-1-antitrypsin is not explained by routine testing, such as proteotyping, genotyping, or isoelectric focusing phenotyping. Determining the specific allelic variant...

MAL - Overview: Rapid Malaria/Babesia Smear, Varies

Rapid and accurate detection and species identification of Plasmodium Detection of Babesia, trypanosomes, and some species of microfilariae

TPMT3 - Overview: Thiopurine Methyltransferase Activity Profile, Erythrocytes

Detection of individuals with low thiopurine methyltransferase (TPMT) activity who are at risk for excessive myelosuppression or severe hematopoietic toxicity when taking thiopurine drugs Detection of individuals with hyperactive TPMT...

2425D - Overview: 25-Hydroxyvitamin D:24,25-Dihydroxyvitamin D Ratio, Serum

As a screening test for inactivating CYP24A1 variants in patients with symptoms, signs, or biochemical findings of parathyroid hormone-independent hypercalcemia or hypercalciuria

HSVPV - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Varies

Aiding in the rapid diagnosis of herpes simplex virus (HSV) infections, including qualitative detection of HSV DNA in nonblood clinical specimens This test should not be used to screen asymptomatic patients.

VEDOL - Overview: Vedolizumab Quantitation with Reflex to Antibodies, Serum

Assessing the response to therapy with vedolizumab An aid to achieving desired trough serum concentration of vedolizumab

OLIGU - Overview: Oligosaccharide Screen, Random, Urine

Screening for selected oligosaccharidosis

BPGMM - Overview: 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies

Diagnosing 2,3-bisphosphoglycerate mutase deficiency in individuals with lifelong, unexplained erythrocytosis Identifying genetic variant carriers in family members of an affected individual for the purposes of preconception genetic...

LPSC1 - Overview: Lipid Panel, Serum

Managing atherosclerotic cardiovascular disease risk using serum specimens

MDM2F - Overview: MDM2 (12q15) Amplification, Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue

Identifying MDM2 amplification Supporting the diagnosis of many neoplasms, including, but not limited to, well-differentiated liposarcoma, atypical lipomatous tumor, dedifferentiated liposarcoma, parosteal osteosarcoma and central...

MLH1 - Overview: MLH1 Immunostain, Technical Component Only

Evaluation of tumor tissue to identify patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome Evaluation of tumor tissue to identify patients at risk for having hereditary endometrial...

SHPV - Overview: Human Papillomavirus (HPV) DNA Detection with Genotyping, High-Risk Types by PCR, SurePath, Varies

Detection of high-risk (HR) genotypes associated with the development of cervical cancer An aid in triaging women with abnormal Pap smear test results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18, if present...

HCYSS - Overview: Homocysteine, Total, Serum

An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...

HCYSP - Overview: Homocysteine, Total, Plasma

An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...

FHV8P - Overview: Herpesvirus 8 (HHV-8) DNA, Quantitative Real-Time PCR

Herpesvirus 8 (HHV-8) DNA, Quantitative Real-Time PCR

FETCE - Overview: Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts

Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts

GLICP - Overview: CD8 T-Cell Immune Competence Panel, Global, Whole Blood

Determining over immunosuppression within the CD8 T-cell compartment, when used on transplant recipients and patients with autoimmune disorders receiving therapy with immunosuppressant agents

IGFMS - Overview: Insulin-Like Growth Factor-1, Mass Spectrometry, Serum

Evaluation of growth disorders Evaluation of growth hormone deficiency or excess in children and adults Monitoring of recombinant human growth hormone treatment Follow-up of individuals with acromegaly and gigantism

CATLN - Overview: Calcitonin, Fine-Needle Aspiration Biopsy Needle Wash, Lymph Node

As an adjunct to cytologic examination of fine-needle aspiration specimens in athyrotic individuals treated for medullary thyroid carcinoma to confirm or exclude metastases in enlarged or ultrasonographically suspicious lymph nodes

MYEFL - Overview: Myelodysplastic Syndrome by Flow Cytometry, Bone Marrow

Detecting increased blasts Characterizing blast phenotypes Identifying abnormal patterns of myeloid maturation as seen in myelodysplastic syndromes and other clonal myeloid neoplasms Providing additional adjunct diagnostic information in...

PLASF - Overview: Plasma Cell Proliferative Disorder, FISH, Tissue

Supporting the diagnosis of plasmacytoma or myeloma when coordinated with a surgical pathology consultation

STICK - Overview: Tick-Borne Antibodies, Modified 2-Tier, ELISA, Serum

Evaluation of the most common tick-borne diseases found in the United States, including Lyme disease, human monocytic and granulocytic ehrlichiosis, and babesiosis using the modified 2-tier testing algorithm approach Evaluation of patients...