PMCMG - Overview: Postmortem Cardiomyopathy Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or with a personal or family history suggestive of a hereditary form of cardiomyopathy Identifying a disease-causing...

PHEPU - Overview: Previous Viral Hepatitis (Unknown Type), Serum

Determining if an individual has been infected following exposure to an unknown type of viral hepatitis virus Obtaining baseline serologic markers of an individual exposed to a source with an unknown type of hepatitis Determining...

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...

PHD2 - Overview: Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood

Assessing PHD2/EGLN1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

GNSPD - Overview: Platelet Storage Pool Deficiency Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary platelet storage pool deficiencies in patients with a personal or family history suggestive of a hereditary platelet storage pool deficiency Diagnosing hereditary platelet storage pool deficiencies for patients in...

PUSE - Overview: Pumpkin Seed, IgE, Serum

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

PINTP - Overview: Peripheral Smear Interpretation, Whole Blood

Interpretation of a Wright-stained peripheral blood smear

PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...

PSYR - Overview: Psychosine, Whole Blood

Aiding in the biochemical diagnosis of Krabbe disease using whole blood specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring of...

PSYCF - Overview: Psychosine, Spinal Fluid

Aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring...