PYRC - Overview: Pyruvate, Spinal Fluid

Investigating possible disorders of mitochondrial metabolism, when used in conjunction with cerebrospinal fluid lactate, collected at the same time, to determine the lactate-to-pyruvate (L:P) ratio Evaluating patients with neurologic...

PKUBS - Overview: Phenylalanine and Tyrosine, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific cause of hyperphenylalaninemia

PKUSC - Overview: Phenylalanine and Tyrosine, Self-Collect, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia in a patient-collected specimen This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific...

RNAP - Overview: RNA Polymerase III Antibodies, IgG, Serum

Evaluating patients suspected of having systemic sclerosis as part of systemic sclerosis criteria antibody tests Providing diagnostic and prognostic information in patients with systemic sclerosis

RTRP2 - Overview: Tubular Reabsorption of Phosphorus, Random Urine and Serum

Assessing renal reabsorption of phosphorus in a variety of pathological conditions associated with hypophosphatemia including hypophosphatemic rickets, tumor-induced osteomalacia, and tumoral calcinosis Adjusting phosphate replacement...

DMC2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Investigating new onset dementia and cognitive impairment plus 1 or more of the following accompaniments using cerebrospinal fluid specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis,...

DMS2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset dementia and cognitive impairment plus 1 or more of the following using serum specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis, hallucinations) -Movement disorder...

DYS2 - Overview: Dysautonomia, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating idiopathic dysautonomic symptoms Directing a focused search for cancer in patients with idiopathic dysautonomia Investigating autonomic symptoms that appear in the course or wake of cancer therapy and are not explainable by...

UCDP - Overview: Urea Cycle Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a urea cycle disorder (UCD) Establishing a molecular diagnosis for patients with a UCD Identifying variants within genes known to be associated with UCD, allowing for predictive...

UBKQN - Overview: BK Virus DNA Detection and Quantification, Random, Urine

Detection and serial monitoring of BK virus (BKV)-associated nephropathy in kidney transplant recipients using random urine specimens Detection and serial monitoring of BKV-associated hemorrhagic cystitis in organ transplant recipients