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Test Catalog

SPSM - Overview: Morphology Evaluation (Special Smear), Blood

Detecting disease states or syndromes of the white blood cells, red blood cells, or platelet cell lines of a patient's peripheral blood

MRDMR - Overview: Multiple Myeloma Minimal Residual Disease by Flow Cytometry, Bone Marrow

Detecting low level (minimal residual disease) myeloma cells after therapy to confirm remission has been achieved

SSA - Overview: SS-A/Ro Antibodies, IgG, Serum

Evaluating patients at-risk for connective tissue disease with or without interstitial lung disease Detection of both anti-SS-A 52 (Ro52) and SS-A 60 (Ro60) antibodies in serum

DRPL - Overview: Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies

Confirming the diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) for symptomatic patients Predictive testing for individuals with a family history of DRPLA and a documented expansion in the ATN1 gene in an affected family member

PBLI - Overview: Plasma Cell Assessment, Blood

Detecting peripheral blood involvement by plasma cell proliferative disorders Establishing the diagnosis of and determining prognosis for plasma cell proliferative disorders

199PT - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Peritoneal Fluid

An adjunct to cytology to differentiate between malignancy-related ascites and benign causes of ascites formation

CHRTI - Overview: Chromosome Analysis, Skin Biopsy

Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities Subsequent chromosome analysis when results from peripheral blood are inconclusive

HPFH - Overview: Hemoglobin F Distribution, Blood

Distinguishing large deletional hereditary persistence of fetal hemoglobin from other conditions with increased percentage of fetal hemoglobin (Hb F) Determining the distribution of Hb F within red blood cells

PLPMA - Overview: Prolactin, Pituitary Macroadenoma, Serum

Quantifying prolactin in serum specimens where the high-dose hook effect is suspected (eg, presence of pituitary tumor with symptoms of prolactinoma, and lower than expected serum prolactin concentration)

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

PIPU - Overview: Pipecolic Acid, Random, Urine

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function Detecting abnormal elevations of pipecolic acid in urine

RISA - Overview: Risankizumab, Serum

Assessing the response to risankizumab therapy Assessing the need for dose escalation Evaluating potential changes or discontinuation of therapy Monitoring patients who need to be above a certain risankizumab concentration to improve the...

FSH - Overview: Follicle-Stimulating Hormone (FSH), Serum

An adjunct in the evaluation of menstrual irregularities Evaluating patients with suspected hypogonadism Predicting ovulation Evaluating infertility Diagnosing pituitary disorders

VWFMP - Overview: von Willebrand Factor Multimer Analysis, Plasma

As a reflex component of several coagulation consultation unit codes, when indicated When results of complementary laboratory tests are abnormally low or discordant (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von...

PKU - Overview: Phenylalanine and Tyrosine, Plasma

Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia

PIPA - Overview: Pipecolic Acid, Serum

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function Detecting abnormal elevations of pipecolic acid in serum

GNHMA - Overview: Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies

Confirming a clinical diagnosis of hemophilia A in affected male patients with the identification of a disease-causing variant in the F8 gene Determining the disease-causing alteration within the F8 gene to delineate the underlying...

JO1 - Overview: Jo 1 Antibodies, IgG, Serum

Evaluating patients with clinical features of idiopathic inflammatory myositis, especially those with clinical features suggestive of anti-synthetase syndrome or interstitial lung disease

GALK - Overview: Galactokinase, Blood

Diagnosis of galactokinase deficiency Evaluation of children with unexplained bilateral congenital or juvenile onset cataracts

YMCRO - Overview: Y Chromosome Microdeletions, Molecular Detection, Varies

Evaluating men with azoospermia, severe oligozoospermia, or otherwise unexplained male factor infertility

HL58R - Overview: HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Varies

Identifying individuals with an increased risk of severe cutaneous adverse reactions to allopurinol based on the presence of the human leukocyte antigen HLA-B*58:01 allele

TQ10 - Overview: Coenzyme Q10, Total, Plasma

Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Monitoring patients receiving statin therapy Monitoring CoQ10 status during treatment of various degenerative conditions,...

INHA - Overview: Inhibin A, Tumor Marker, Serum

Aiding in the diagnosis of patients with granulosa cell tumors of the ovary when used in combination with inhibin B Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to secrete inhibin...

HSVC - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Spinal Fluid

Aiding in the rapid diagnosis of herpes simplex virus (HSV)-1 and HSV-2 infections of the central nervous system

NSESF - Overview: Neuron-Specific Enolase (NSE), Spinal Fluid

An auxiliary test in the diagnosis of Creutzfeldt-Jakob disease An auxiliary test in the diagnosis of small cell lung carcinoma metastasis to central nervous system or leptomeninges

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...

DDITT - Overview: D-Dimer, Plasma

Excluding the diagnosis of acute pulmonary embolism or deep vein thrombosis, particularly when results of a sensitive D-dimer assay are combined with clinical information, including pretest disease probability(1-4) Diagnosis of...

SRAU - Overview: Serotonin Release Assay, Unfractionated Heparin, Mass Spectrometry, Serum

Detecting heparin-dependent platelet activating antibodies implicated in the pathogenesis of heparin-induced thrombocytopenia

VWAG - Overview: von Willebrand Factor Antigen, Plasma

Diagnosis of von Willebrand disease (VWD) and differentiation of VWD subtype (in conjunction with von Willebrand factor ristocetin cofactor activity and factor VIII coagulant activity) Differentiation of VWD from hemophilia A (in...

CTX - Overview: Beta-CrossLaps, Serum

Monitoring antiresorptive therapies (eg, bisphosphonates and hormone replacement therapy) in postmenopausal women treated for osteoporosis and individuals diagnosed with osteopenia An adjunct in the diagnosis of medical conditions...

AVWPQ - Overview: von Willebrand Disease Profile Interpretation

Interpretation of testing performed as part of a profile for detection of deficiency or abnormality of von Willebrand factor (VWF) and related deficiency of factor VIII coagulant activity Interpretation of testing performed as part of a...

VWFMS - Overview: von Willebrand Factor Multimer Analysis, Plasma

Resolving discrepancies when results of complementary laboratory tests (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von Willebrand Factor Activity, Plasma; and VWAG / von Willebrand Factor Antigen, Plasma) are...

RTQPC - Overview: Abnormal Prion Protein, Real-Time Quaking Induced Conversion, Spinal Fluid

Aiding in diagnosing sporadic Creutzfeldt-Jakob disease or other prion disease in patients with a rapidly progressive dementia

ATTI - Overview: Antithrombin Antigen, Plasma

Assessing abnormal results of the antithrombin activity assay (ATTF / Antithrombin Activity, Plasma), the recommended primary (screening) antithrombin assay Diagnosing antithrombin deficiency, acquired or congenital, in conjunction with...

CDGN - Overview: Congenital Disorders of N-Glycosylation, Serum

Screening for N-linked congenital disorders of glycosylation Providing information on specific structural oligosaccharide abnormalities to potentially direct further genetic testing

PRA - Overview: Renin Activity, Plasma

Investigation of primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) and secondary aldosteronism (renovascular disease, salt depletion, potassium loading, cardiac failure with ascites, pregnancy, Bartter...

RO52 - Overview: Ro52 Antibody, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60

RO60 - Overview: Ro60 Antibody, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60

ROPAN - Overview: Ro52 and Ro60 Antibodies, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiation of antibodies to Ro52 and Ro60 in patients known to be positive for anti-SS-A (Ro) antibodies

VLCZ - Overview: Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene Analysis, Varies

Confirmation of a diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency Carrier screening in cases where there is a family history of VLCAD deficiency, but an affected individual is not available for testing or...

IHC - Overview: Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor

Evaluating tumor tissue to identify patients at risk for having hereditary nonpolyposis colon cancer/Lynch syndrome

Q10 - Overview: Coenzyme Q10, Reduced and Total, Plasma

Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Diagnosis of CoQ10 deficiency in mitochondrial disorders Monitoring CoQ10 status during treatment of various degenerative...

VWD8B - Overview: von Willebrand Disease 2N (Subtype Normandy), Plasma

Diagnosing von Willebrand disease (VWD) type 2N Evaluating patients diagnosed with mild-to-moderate hemophilia A with an autosomal inheritance pattern Evaluating hemophilia A patients with a shortened survival of infused factor VIII...

BUAUC - Overview: Busulfan, Intravenous Dose, Area Under the Curve, Plasma

Guiding dosage adjustments to achieve complete bone marrow ablation while minimizing dose-dependent toxicity

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Alpha-gal testing [Test in Focus] - Insights

allergy to the alpha-gal molecule, and he describes a new allergen antibody test that can be used to detect it. Dr. Bornhorst also reviews other tests that should be used in conjunction with alpha-gal testing...

MCL Second Trimester Maternal Screening AlphaFetoprotein Quad Screen Patient Information MC1235123

AlphaFetoprotein Quad Screen Patient Information Complete print Reset Form Trimester Maternal Screening Alpha Fetoprotein Quad Screen Patient Information Patient Information required Patient...

Alpha_1_Antitrypsin.indd

Alpha1 Antitrypsin—A Comprehensive Testing Algorithm A1AT serum level and proteotype Order A1ALC / Alpha-1-Antitrypsin Proteotype S/Z by LC-MS/MS, Serum incl......

Neuroimmunology: Updates and antibody test utilization - Insights

In this month’s “Hot Topic,” Andrew McKeon, M.B., B.Ch., M.D., reviews the use of neurological phenotype-based evaluations, the move away from the paraneoplastic evaluation, and upcoming changes to test...

lysosomal_storage_disorders_diagnostic_algorithm__part_1.pdf

Order: IDUAW / Alpha-L-Iduronidase, Leukocytes Order 1 of the following: ■ BGA / Beta-Galactosidase, Leukocytes ■ MPS4B ■ MPS4W Order: FUCW / Alpha-Fucosidase, Leukocytes Order 1 of the following: MPS4W...