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Test Catalog

QMPTS - Overview: Monoclonal Protein Isotype, Quantitative, Serum

Aiding in the diagnosis and monitoring of monoclonal gammopathies if used in conjunction with free light chain studies This test alone is not considered an adequate screen for monoclonal gammopathies.

TYRBS - Overview: Tyrosinemia Follow Up Panel, Blood Spot

Monitoring of individuals with tyrosinemia type 1 (HT-1) Diagnosis of HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and molecular genetic analysis of the fumarylacetoacetate...

TGOGF - Overview: TGFBR3 (1p22), OGA (10q24) Rearrangement, FISH, Tissue

Supporting the diagnosis of pleomorphic hyalinizing angiectatic tumor, or hemosiderotic fibrolipomatous tumors associated with rearrangement of the OGA and/or TGFBR3 gene when used in conjunction with an anatomic pathology consultation

PHD2 - Overview: Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood

Assessing PHD2/EGLN1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

PSYR - Overview: Psychosine, Whole Blood

Aiding in the biochemical diagnosis of Krabbe disease using whole blood specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring of...

CDSP - Overview: Celiac Disease Serology Cascade, Serum

Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated disease, positivity...

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