Test Catalog Search Results

21DOC - Overview: 21-Deoxycortisol, Serum

As an adjunct to measurement of 17-hydroxyprogesterone, androstenedione, and cortisol in the diagnosis of difficult cases of suspected 21-hydroxylase (CYP21A2) deficiency Identifying heterozygote CYP21A2 deficiency carriers As an adjunct...

OHPG - Overview: 17-Hydroxyprogesterone, Serum

Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione As part of a battery of tests to evaluate women with...

HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...

FACEC - Overview: Angiotensin Converting Enzyme, CSF

Support diagnosis of neurosarcoidosis. May be used to evaluate treatment response.

ALAGP - Overview: Alagille Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Alagille syndrome Establishing a diagnosis of Alagille syndrome

GNF13 - Overview: Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies

Evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID Confirming an FXIIID diagnosis with the identification of known or suspected disease-causing alterations in the F13A1 or F13B...

DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...

PCGP - Overview: Porphyria Comprehensive Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of porphyria Establishing a molecular diagnosis for patients with porphyria Identifying variants within genes known to be associated with porphyria, allowing for predictive testing of...

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...

PLSD - Overview: Lysosomal and Peroxisomal Disorders Screen, Blood Spot

Evaluation of patients with a clinical presentation suggestive of a lysosomal disorder, specifically Gaucher, infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, Pompe, Krabbe, or Fabry disease, or...

ADMA - Overview: Asymmetric Dimethylarginine, Plasma

Assessing the likelihood of future coronary events in patients with coronary heart disease, type II diabetes mellitus, or kidney disease Prompting intervention and assessing improvements among subjects with elevated ADMA and...

ALBR - Overview: Albumin, Random, Urine

Assessing the potential for early onset of nephropathy in diabetic patients using random urine specimens

ALDU - Overview: Aldosterone, 24 Hour, Urine

Investigating 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...

CD56 - Overview: CD56 Immunostain, Technical Component Only

Aiding in the identification of tumors with neuroendocrine differentiation Aiding in the identification of natural killer cell lineage in a subset of lymphomas

RALB1 - Overview: Albumin, Random, Urine

Assessing the potential for early onset of nephropathy in diabetic patients using random urine specimens

FACTV - Overview: Coagulation Factor V Activity Assay, Plasma

Diagnosing congenital deficiencies (rare) of coagulation factor V Evaluating acquired deficiencies associated with liver disease, factor V inhibitors, myeloproliferative disorders, and intravascular coagulation and fibrinolysis...

GUSBW - Overview: Beta-Glucuronidase, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis type VII (MPS VII, Sly syndrome) in whole blood This test is not useful for carrier detection for MPS VII.

FATF - Overview: Fat, Feces

Diagnosing fat malabsorption due to pancreatic or intestinal disorders Monitoring effectiveness of enzyme supplementation in certain malabsorption disorders This test is not useful for differentiating among pancreatic diseases.

FUFXS - Overview: Fragile X, Follow-up Analysis

Confirming the methylation status of the repeat expansion allele in the FMR1 gene, to aid the diagnosis of FMR1-related disorders

HAEVI - Overview: Hemolytic Anemia Interpretation

Interpretation of the results for the evaluation of hemolytic anemia Evaluation of lifelong or inherited hemolytic anemias, including red cell membrane disorders, unstable or abnormal hemoglobin variants, and red cell enzyme disorders

EMICZ - Overview: Emicizumab, Modified One Stage Assay Factor VIII, Plasma

Monitoring compliance or potential development of an antidrug antibody This assay is not indicated for monitoring factor VIII infusions or for making a diagnosis of hemophilia.