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,...

RBCS - Overview: Relative B-Cell Subset Analysis Percentage, Blood

Screening for humoral or combined immunodeficiencies, including common variable immunodeficiency, hyper IgM syndrome, among others, where B-cell subset distribution information is desired Assessing B-cell subset reconstitution after...

MMAGP - Overview: Methylmalonic Aciduria Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a methylmalonic acidemia (MMA) Establishing a molecular diagnosis for patients with MMA Identifying variants within genes known to be associated with MMA, allowing for predictive...

TTRX - Overview: Amyloidosis, Transthyretin-Associated Familial, Reflex, Blood

Diagnosis of adult individuals suspected of having transthyretin-associated familial amyloidosis

HV1CM - Overview: HIV-1 and HIV-2 Antibody Screen for Hemolyzed Specimens, Serum

Screening cadaveric or hemolyzed serum specimens for HIV-1 and/or HIV-2 infection in nonsymptomatic patients with or without risk factors for HIV infection This test is not offered as a screening or confirmatory test for blood donor...

HV1CD - Overview: HIV-1 and HIV-2 Antibodies for Cadaveric or Hemolyzed Specimens, Serum

Diagnosing HIV-1 and/or HIV-2 infection in cadaveric or hemolyzed serum specimens from symptomatic patients with or without risk factors for HIV infection This test is not offered as a screening or confirmatory test for blood donor...

DMS2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset dementia and cognitive impairment plus 1 or more of the following using serum specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis, hallucinations) -Movement disorder...

DMC2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Investigating new onset dementia and cognitive impairment plus 1 or more of the following accompaniments using cerebrospinal fluid specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis,...

PFAPE - Overview: Fatty Acid Profile, Essential, Plasma

Evaluating the nutritional intake and intestinal absorption of essential fatty acids using plasma specimens Identifying deficiency of essential and other nutritionally beneficial fatty acids Monitoring treatment of patients with essential...

FAPEP - Overview: Fatty Acid Profile, Essential, Serum

Evaluating the nutritional intake and intestinal absorption of essential fatty acids using serum specimens Identifying deficiency of essential and other nutritionally beneficial fatty acids Monitoring treatment of patients with essential...

HIVSP - Overview: HIV Antigen and Antibody Prenatal Routine Screen, Plasma

Screening for HIV-1 and HIV-2 infection in nonsymptomatic pregnant patients This test should not be used as a screening or confirmatory test for blood donor specimens.

DMITO - Overview: Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies

Assessing the heteroplasmy level of previously detected large mitochondrial DNA (mtDNA) deletions. Screening family members for previously detected large mtDNA deletions. This test is not recommended for first tier diagnostic testing...

HVPRS - Overview: HIV Antigen and Antibody Prenatal Routine Screen, Serum

Screening for HIV-1 and HIV-2 infection in nonsymptomatic pregnant patients This test should not be used as a screening or confirmatory test for blood donor specimens.

MSP3 - Overview: Multiple Sclerosis (MS) Cascade, Serum and Spinal Fluid

Diagnosing multiple sclerosis, especially helpful in patients with equivocal clinical or radiological findings

MP8BS - Overview: Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.

TREGS - Overview: T-Cell Subsets, Regulatory (Tregs), Blood

Evaluating patients with clinical features of IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance) and other primary immunodeficiencies, autoimmune diseases, allergy and asthma, and graft-vs-host disease...

SERU - Overview: Serotonin, 24 Hour, Urine

Diagnosis of a small subgroup of carcinoid tumors that produce predominately 5-hydroxytryptophan (5-HTP) but very little serotonin and chromogranin A Follow-up for patients with known or treated carcinoid tumors that produce predominately...

HIVSS - Overview: HIV-1 and HIV-2 Antigen and Antibody Routine Screen, Serum

Screening for HIV-1 and HIV-2 infection in nonsymptomatic, nonpregnant individuals older than 2 years This test should not be used as a screening or confirmatory test for blood donor specimens.

CRDPU - Overview: Creatine Disorders Panel, Random, Urine

Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency

MUGS - Overview: Hexosaminidase A, Serum

Second-order test for diagnosing the B1 variant of Tay-Sachs disease This test is not useful for testing for Sandhoff disease.

NGAMT - Overview: MayoComplete Acute Myeloid Leukemia, Therapeutic Gene Mutation Panel (FLT3, IDH1, IDH2, TP53), Next-Generation Sequencing, Varies

Evaluation of acute myeloid leukemia using a focused 4-gene panel at the time of diagnosis, or possibly relapsed or refractory disease, to help guide possible therapeutic approaches

NGAML - Overview: MayoComplete Acute Myeloid Leukemia, 11-Gene Panel, Varies

Evaluation of acute myeloid leukemia using a focused 11-gene panel at the time of diagnosis, or possibly at the time of relapsed/refractory disease, to help guide classification and possible therapeutic approaches

NSRGG - Overview: Noonan Syndrome and Related Conditions Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome,...

CRDPS - Overview: Creatine Disorders Panel, Serum

Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency,guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency using serum specimens

CRDPP - Overview: Creatine Disorders Panel, Plasma

Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency using plasma specimens

HGNA - Overview: Mercury, Nails

Detecting mercury exposure in nail specimens

KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies

Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family

IETG - Overview: Interference Evaluation Heterophile, Thyroglobulin Tumor Marker, Serum

Evaluation of suspected interference from heterophile antibodies causing a falsely elevated thyroglobulin result

NAGS - Overview: Hexosaminidase A and Total Hexosaminidase, Serum

Carrier detection and diagnosis of Tay-Sachs disease and Sandhoff disease Ruling out I-cell disease This test is not useful for pregnant females or those treated with hormonal contraception.

NAGW - Overview: Hexosaminidase A and Total Hexosaminidase, Leukocytes

Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease

GCT - Overview: Galactosemia Reflex, Blood

Preferred test for diagnosis, carrier detection, and determination of genotype of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Differentiating Duarte variant galactosemia from classic...

DRV1 - Overview: Dilute Russell's Viper Venom Time (DRVVT), Plasma

Detecting and confirming or helping to exclude the presence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin...

DRVI1 - Overview: Dilute Russell's Viper Venom Time (DRVVT), with Reflex, Plasma

Detecting and confirming or helping to exclude the presence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin...

HVCOP - Overview: HIV-1 and HIV-2 Antigen and Antibody Routine Screen, Plasma

Screening for HIV-1 and HIV-2 infection in nonsymptomatic, nonpregnant individuals older than 2 years This test should not be used as a screening or confirmatory test for blood donor specimens.

LYNCP - Overview: Lynch Syndrome Panel, Varies

Establishing a diagnosis of Lynch syndrome or constitutional mismatch repair deficiency allowing for targeted cancer surveillance based on associated risks Identifying MLH1, MSH2, MSH6, PMS2, or EPCAM variants to allow for predictive...

HIVDS - Overview: HIV-1 and HIV-2 Antigen and Antibody Diagnostic Evaluation, Serum

Detecting HIV-1 and HIV-2 infection in symptomatic patients older than 2 years Follow-up testing of symptomatic individuals with reactive rapid HIV test results This test should not be used as a screening or confirmatory test for blood...

G6PD1 - Overview: Glucose 6-Phosphate Dehydrogenase Enzyme Activity, Blood

Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose 6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...

H2BR - Overview: HER2 Amplification Associated with Breast Cancer, FISH, Tissue

A predictive marker for patients with both node-positive or node-negative primary and metastatic breast cancer Patients with HER2 amplification that may be candidates for therapies targeting the human epidermal growth factor receptor 2...

PHI11 - Overview: Prostate Health Index Reflex, Serum

As an aid in distinguishing prostate cancer from benign prostatic conditions in men aged 50 years and older with total PSA between 4.0 and 10.0 ng/mL and digital rectal examination findings that are not suspicious for cancer

NCYB - Overview: Recessive Congenital Methemoglobinemia, CYB5 and CYB5 Reductase Genetic Analysis, Next-Generation Sequencing, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of recessive congenital methemoglobinemia Genotype confirmation of borderline cytochrome b5 reductase (methemoglobin reductase: METR) enzyme activity...

ASNA - Overview: Arsenic, Nails

Detection of nonacute arsenic exposure in nail specimens

PBNA - Overview: Lead, Nails

Detecting lead exposure using nail specimens

HGOU - Overview: Mercury Occupational Exposure, Random, Urine

Detecting mercury toxicity due to occupational exposure in random urine specimens

HGHAR - Overview: Mercury, Hair

Detecting mercury exposure in hair specimens

ASHA - Overview: Arsenic, Hair

Detection of nonacute arsenic exposure in hair specimens

DIA - Overview: Diazepam and Nordiazepam, Serum

Assessing compliance Monitoring for appropriate therapeutic level Assessing diazepam toxicity

CDP - Overview: Chlordiazepoxide and Metabolite, Serum

Monitoring chlordiazepoxide therapy Assessing toxicity

CZPS - Overview: Clonazepam and 7-Aminoclonazepam, Serum

Assessing patient compliance Monitoring for appropriate therapeutic level Assessing clonazepam toxicity

CDB - Overview: Cadmium, Blood

Detecting exposure to cadmium, a toxic heavy metal

ETGL - Overview: Ethylene Glycol, Serum

Confirming and monitoring ethylene glycol toxicity