PANCP - Overview: Hereditary Pancreatic Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary pancreatic cancer syndrome Establishing a diagnosis of a hereditary pancreatic cancer syndrome, allowing for targeted cancer surveillance based on associated...

SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies

First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA

CFSMN - Overview: Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies

Reproductive risk refinement via carrier screening for individuals in the general population for cystic fibrosis and spinal muscular atrophy. Reproductive risk refinement via carrier screening for individuals with a family history of...

WARSQ - Overview: Warfarin Response Genotype, Varies

Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...

BTKSG - Overview: Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies

Confirming a diagnosis of X-linked agammaglobulinemia in patients with a history of recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, with or without abnormal Bruton tyrosine kinase...

2D6Q - Overview: Cytochrome P450 2D6 Comprehensive Cascade, Varies

Providing information relevant to tamoxifen, codeine, and tramadol, as well as other medications metabolized by cytochrome P450 2D6 Determining the exact genotype when other methods fail to generate this information or if...

HBEL1 - Overview: Hemoglobin Electrophoresis Evaluation, Blood

Diagnosis and classification of hemoglobin disorders, including thalassemias and hemoglobin variants

GNTHR - Overview: Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary thrombosis in patients with a personal or family history suggestive of a hereditary thrombosis disorder Confirming a hereditary thrombosis disorder diagnosis with the identification of a known or suspected pathogenic...