SRYF - Overview: Sex-Determining Region Y, Yp11.3 Deletion, FISH

Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies

HEXAZ - Overview: Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies

Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not...

AN3TS - Overview: Antineuronal Nuclear Antibody Type 3 (ANNA-3) Titer, Serum

Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for primary lung carcinoma Reporting an end titer result from serum specimens

NCLGP - Overview: Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies

Follow up for abnormal biochemical or electron microscopy results suspicious for neuronal ceroid lipofuscinoses (NCL) Establishing a molecular diagnosis for patients with NCL Identifying variations within genes known to be associated with...

CLLDB - Overview: Probe, Each Additional (CLLDF) (Bill Only)

Probe, Each Additional (CLLDF) (Bill Only)

FPROP - Overview: Propofol, Serum/Plasma

Propofol, Serum/Plasma

PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes

Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...

HRSPF - Overview: Horse Dander, IgE with Reflex to Horse Dander Component, IgE, Serum

Evaluating patients with suspected horse dander allergy

FHCC1 - Overview: Hazelnut Component rCor a 1

Hazelnut Component rCor a 1

GNF11 - Overview: Hemophilia C (Factor XI Deficiency), F11 Gene, Next-Generation Sequencing, Varies

Evaluating factor XI deficiency (FXID) in patients with a personal or family history suggestive of FXID Confirming an FXID diagnosis with the identification of known or suspected disease-causing alterations in the F11 gene Determining...