SDHMP - Overview: SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the SDHA, SDHB, SDHC, and SDHD genes to assist in tumor diagnosis/classification, including pheochromocytoma/paraganglioma, renal cell carcinoma, and pituitary adenoma
METRN - Overview: Metanephrines, Fractionated, Random, Urine
A second-order screening test for the presumptive diagnosis of pheochromocytoma in patients with non-episodic hypertension Confirming positive plasma metanephrine results in patients with non-episodic hypertension
POLET - Overview: POLE Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the POLE gene to assist in tumor diagnosis/classification
PMPDD - Overview: PMP22 Gene, Large Deletion/Duplication Analysis, Varies
Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies
PQNRU - Overview: Porphyrins, Quantitative, Random, Urine
Preferred test to begin assessment for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen...
Assessing sensitization to various inhalant allergens commonly found in the North Atlantic region including Connecticut, Maryland, Maine, New Hampshire, New Jersey, New York, Pennsylvania, Rhode Island, and Vermont Defining the allergen...
GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies
Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)
RPR5 - Overview: Respiratory Profile, Region 5, Ohio Valley (IN, KY, OH, TN, WV), Serum
Assessing sensitization to various inhalant allergens commonly found in the Ohio Valley region including Indiana, Kentucky, Ohio, Tennessee, and West Virginia Defining the allergen responsible for eliciting signs and symptoms...
RPDEI - Overview: Rapidly Progressive Dementia Evaluation Interpretation, Spinal Fluid
Interpretation of the Rapidly Progressive Dementia Evaluation
FQPPS - Overview: Porphyrins, Feces
Evaluation of patients who present with signs or symptoms suggestive of porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, or X-linked dominant...