SFIGS - Overview: IgG, Serum

Aiding in the diagnosis of multiple sclerosis and other central nervous system inflammatory conditions as a part of a profile

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.

EWSF - Overview: Ewing Sarcoma, 22q12 (EWSR1) Rearrangement, FISH, Tissue

Detection of EWSR1 rearrangements irrespective of the EWSR1 fusion partner gene Supporting the diagnosis of many neoplasms including, but not limited to, Ewing sarcoma, extraskeletal myxoid chondrosarcoma, desmoplastic small round cell...

AACSF - Overview: Amino Acids, Quantitative, Spinal Fluid

Evaluating patients with possible inborn errors of amino acid metabolism, particularly nonketotic hyperglycinemia (glycine encephalopathy) and serine biosynthesis defects, especially when used in conjunction with concomitantly collected...

MMAU - Overview: Methylmalonic Acid, Quantitative, Urine

Evaluating children with signs and symptoms of methylmalonic acidemia using urine specimens Evaluating individuals with signs and symptoms associated with a variety of causes of vitamin B12 (cobalamin) deficiency

PEC - Overview: Pecan-Food, IgE, Serum

Establishing a diagnosis of an allergy to pecan-food Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm sensitization...

TALDO - Overview: Polyols, Quantitative, Urine

Diagnosing deficiencies of transaldolase, transketolase, sedoheptulose, or ribose-5-phosphate isomerase

PHMA - Overview: Phoma betae, IgE, Serum

Establishing a diagnosis of an allergy to Phoma betae Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm sensitization...