MP9W - Overview: Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IIID, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.

OXYWB - Overview: Oxysterols, Blood

Investigating a possible diagnosis of Niemann-Pick disease type A, B, or C using whole blood specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.

NUT1F - Overview: NUTM1 (15q14) Rearrangement, FISH, Tissue

Identifying NUTM1 gene rearrangements in patients with nuclear protein in testis midline carcinoma to aid in confirming or excluding the diagnosis

PEE - Overview: Porphyrins Evaluation, Whole Blood

Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria

PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes

Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...

PNBX - Overview: Peripheral Nerve Pathology Consultation

Evaluating diseases of the nerve and disorders that affect nerve function

SER - Overview: Serotonin, Serum

Evaluation of carcinoid syndrome

TERTD - Overview: TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor

Identifying specific mutations within the TERT promoter that assist in tumor diagnosis/classification

TVRNA - Overview: Trichomonas vaginalis, Nucleic Acid Amplification, Varies

Detecting Trichomonas vaginalis in urine, cervical/endocervical or vaginal specimen types

WNS - Overview: West Nile Virus Antibody, IgG and IgM, Serum

Laboratory diagnosis of infection with West Nile virus using serum specimens