AAPD - Overview: Amino Acids, Quantitative, Random, Urine

Evaluating patients with possible inborn errors of metabolism using random urine specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional...

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...

BRCAT - Overview: BRCA1/2 Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the BRCA1 and BRCA2 genes known to be associated with response to PARP inhibitors and sensitivity to platinum-based therapy This test is not intended for the evaluation of patients suspected of having...

BRFKT - Overview: BRAF and KIT Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the BRAF and KIT genes that predict response to therapy

CSFP - Overview: Carrier Screen, Focused Panel, Varies

Expanded carrier screening for reproductive risk assessment purposes This test is not useful for clinical diagnosis of an affected individual.

EFPO - Overview: Electrolyte and Osmolality Panel, Feces

Workup of cases of chronic diarrhea Diagnosis of factitious diarrhea (where patient adds water to stool to simulate diarrhea)

HGEM - Overview: Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Blood Spot

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in...

HPFRP - Overview: Helicobacter pylori with Clarithromycin Resistance Prediction, Molecular Detection, PCR, Feces

Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from stool

TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma

XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor

Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets with in the FOXL2 gene