MFBNG - Overview: FBN1 Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and other FBN1-related conditions Establishing a diagnosis for Marfan syndrome and other FBN1-related conditions

HHTGG - Overview: Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT), cerebral cavernous malformation (CCM), capillary malformation-arteriovenous malformation syndrome...

HIQDR - Overview: HIV-1 RNA Quantification with Reflex to Genotypic Drug Resistance to Reverse Transcriptase, Protease, and Integrase Inhibitors, Plasma

Quantifying plasma HIV-1 RNA levels (viral load) in individuals (including children) with known HIV-1 infection, followed by identification of HIV-1 genotypic mutations associated with resistance to nucleotide and non-nucleoside...

MCCRC - Overview: MayoComplete Colorectal Cancer Panel, Next-Generation Sequencing, Tumor

Primarily for determining patient response to various targeted therapies/immunotherapy Predicting prognosis from microsatellite instability status

GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies

Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...

CH9 - Overview: Chromogenic Factor IX Activity Assay, Plasma

Monitoring coagulation factor replacement therapy of selected extended half-life coagulation factor replacements Aiding in the diagnosis of hemophilia B using a 2-stage assay, especially when a 1-stage assay was normal

DDITF - Overview: Myxoid/Round Cell Liposarcoma, 12q13 (DDIT3 or CHOP) Rearrangement, FISH, Tissue

Aiding in the diagnosis of myxoid/round cell liposarcoma by detecting a neoplastic clone associated with gene rearrangement involving the DDIT3 (CHOP) gene region at 12q13