MPNR - Overview: Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies
Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder Evaluating for variants in JAK2, CALR, and MPL genes in an algorithmic process
FBAC - Overview: Bile Acids, Urine
Bile Acids, Urine
CYPZ - Overview: 21-Hydroxylase Gene, CYP21A2, Full Gene Analysis, Varies
Carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) in individuals with a personal or family history of 21-hydroxylase deficiency, or as follow-up to positive CAH newborn screens and/or...
CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...
HCYSS - Overview: Homocysteine, Total, Serum
An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...
HCYSP - Overview: Homocysteine, Total, Plasma
An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...
HEMP - Overview: Hereditary Erythrocytosis Mutations, Whole Blood
Definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit This test is not intended for prenatal...
LIPOG - Overview: Lipodystrophy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary lipodystrophy Establishing a diagnosis of a hereditary lipodystrophy
KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies
Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family
MBX - Overview: Muscle Pathology Consultation
Obtaining a rapid, expert opinion on muscle biopsy specimens for diagnosis of acquired or inherited muscle diseases Guiding treatment and genetic testing, as well as investigating relevance of genetic variants of unknown significance