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LIPOG - Overview: Lipodystrophy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary lipodystrophy Establishing a diagnosis of a hereditary lipodystrophy

COMCP - Overview: Hereditary Common Cancer Panel, Varies

Evaluating hereditary cancer for patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 36 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...

APBTS - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Tissue Immunofluorescence Titer, Serum

The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Reporting an end titer result from serum specimens

APBTC - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Tissue Immunofluorescence Titer, Spinal Fluid

The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Reporting an end titer result from spinal fluid specimens

RAMBO - Overview: Ammonium, Random, Urine

Diagnosis of the cause of acidosis using random urine specimens Diagnosis and treatment of kidney stones

CRT2F - Overview: Creatinine, 24 Hour, Urine

Normalizing urinary analytes to account for the variation in urinary concentration

NF4FS - Overview: Neurofascin-155 IgG4, Flow Cytometry, Serum

Evaluating patients with an underlying demyelinating neuropathy Diagnosis of a neurofascin-155 IgG4 mediated neuropathy

NCDCC - Overview: Neurochondrin Antibody, Cell-Binding Assay, Spinal Fluid

Evaluating neurochondrin-IgG by cell-binding assay using spinal fluid from patients presenting with cerebellar and brainstem syndrome

NCDCS - Overview: Neurochondrin Antibody, Cell-Binding Assay, Serum

Evaluating neurochondrin-IgG by cell-binding assay using serum from patients presenting with cerebellar and brainstem syndrome

PTFIB - Overview: PT-Fibrinogen, Plasma

Detecting increased or decreased fibrinogen (factor 1) concentration of acquired or congenital origin Differentiating hypofibrinogenemia from dysfibrinogenemia

PDETS - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence Titer, Serum

Reporting an end titer result from phosphodiesterase 10A (PDE10A) in serum specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

PDEIC - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence, Spinal Fluid

Detecting phosphodiesterase 10A (PDE10A)-IgG in cerebrospinal fluid specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

PDETC - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence Titer, Spinal Fluid

Reporting an end titer result from phosphodiesterase 10A (PDE10A) in spinal fluid specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

PDEIS - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence, Serum

Detecting phosphodiesterase 10A (PDE10A)-IgG in serum specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy

PINW - Overview: Pinworm Exam, Perianal

Detection of the eggs of Enterobius vermicularis on the skin of the perianal folds

PBR - Overview: Phenobarbital, Serum

Monitoring for appropriate therapeutic concentration of phenobarbital Assessing compliance or toxicity

PLA2I - Overview: Phospholipase A2 Receptor, Immunofluorescence, Serum

Distinguishing primary from secondary membranous nephropathy in patients with low levels of anti-phospholipase A2 receptor (PLA2R) antibodies Screening for anti-PLA2R antibodies Monitoring patients with membranous nephropathy at very...

SP7TC - Overview: Septin-7 Antibody, Tissue Immunofluorescence Titer, Spinal Fluid

Detecting septin-7 IgG in cerebrospinal fluid (CSF) specimens Reporting an end titer result from CSF specimens

SP5TC - Overview: Septin-5 Antibody, Tissue Immunofluorescence, Spinal Fluid

Detecting septin-5 IgG in spinal fluid (CSF) specimens Reporting an end titer result from CSF specimens

5BETH - Overview: Factor V Bethesda Units, Plasma

Detecting and quantifying the presence and titer of a specific factor inhibitor directed against coagulation factor V

FRUCT - Overview: Fructosamine, Serum

Monitoring intermediate (1-3 weeks) glycemic control Monitoring glycemic control in patients with shortened red blood cell survival

NEFA - Overview: Free Fatty Acids, Total, Serum

Evaluation of metabolic status of patients with endocrinopathies Monitoring of control of diabetes mellitus Monitoring the effects of therapeutic diet/exercise lifestyle changes

FIBAG - Overview: Fibrinogen Antigen, Plasma

Evaluation of fibrinogen deficiency Measuring fibrinogen in patients with elevated plasma levels of fibrin degradation products, patients receiving heparin, and in patients with antibodies to thrombin (following surgical use of topical...

GBETH - Overview: General Factor Bethesda Units, Plasma

Detecting and quantifying the presence and titer of a specific factor inhibitor directed against a specific coagulation factor

MEX - Overview: Mexiletine, Serum

Assessing achievement of optimal therapeutic mexiletine concentrations Assessing potential mexiletine toxicity

THEO - Overview: Theophylline, Serum

Assessing and adjusting theophylline dosage for optimal therapeutic level Assessing theophylline toxicity

MSTC - Overview: Strict Criteria Sperm Morphology for Infertility Diagnosis and Treatment, Semen

Diagnosing male infertility Selecting the most cost-effective therapy for treating male-factor infertility Quantifying the number of germinal and white blood cells per mL of semen

VORI - Overview: Voriconazole, Serum

Monitoring trough levels of voriconazole suggested for: -Individuals with reduced liver function -Individuals with cytochrome P450 (CYP) 2C19 alterations associated with poor metabolic function -Patients taking other medications that affect...

VANRA - Overview: Vancomycin, Random, Serum

Monitoring adequacy of drug concentration during vancomycin therapy whenever a specimen is submitted or collected without collection timing information

VANTA - Overview: Vancomycin, Trough, Serum

Preferred test for monitoring vancomycin therapy Monitoring trough concentrations drawn at steady-state in selected patients receiving vancomycin therapy

MPHNU - Overview: Methylphenidate and Metabolite, Random, Urine

Monitoring urine methylphenidate and ritalinic acid concentrations to assess compliance in patients

EEST - Overview: Estradiol, Serum

All applications that require moderately sensitive measurement of estradiol: -Evaluation of hypogonadism and oligo-amenorrhea in females -Assessing ovarian status, including follicle development, for assisted reproduction protocols (eg, in...

TTBS - Overview: Testosterone, Total and Bioavailable, Serum

Recommended second-level test for suspected increases or decreases in physiologically active testosterone: -Assessment of androgen status in cases with suspected or known sex hormone-binding globulin binding abnormalities -Assessment of...

PAC1 - Overview: Paraneoplastic, Autoantibody Evaluation, Spinal Fluid

Aiding in the diagnosis of paraneoplastic neurological autoimmune disorders related to carcinoma of lung, breast, ovary, thymoma, or Hodgkin lymphoma using spinal fluid specimens

BCOR - Overview: BCOR Immunostain, Technical Component Only

Aiding in the distinction of a subset of primitive round cell sarcomas with BCOR rearrangements from other Ewing/Ewing-like sarcomas

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vitamin_b12_deficiency_evaluation.pdf

Research (MFMER). All rights reserved. 03/2022 Vitamin B12 Deficiency Evaluation <150 ng/L>400 ng/L 150-400 ng/L ≤0.4 nmol/mL >0.4 nmol/mL INDETERMINATE ACASM / Pernicious Anemia Cascade, Serum Testing...

mdazl-rhode-island-certification.pdf

0 Q £ IS l -t1 .,. ... ';.� +"'" ¾liNT 0� State of Rhode Island DEPARTMENT OF HEALTH Center for Health Facilities Regulation This is to certify that MAYO CLINIC MOLECULAR...

newborn_screen_follow-up_for_mucopolysaccharidosis_type_i.pdf

rights reserved. 03/2024 Newborn screen result: decreased alpha-L-iduronidase (IDUA) Order 1 from each of the following groups: ■ IDUAW / Alpha-L-Iduronidase, Leukocytes AND ■ MPSBS / Mucop......

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...