APGP - Overview: Acute Porphyria Gene Panel, Varies

Establishing a molecular diagnosis for patients with acute porphyria Identifying variants within genes known to be associated with acute porphyria, allowing for predictive testing of at-risk family members

CRTS1 - Overview: Creatinine with Estimated Glomerular Filtration Rate (eGFR), Serum

Diagnosing and monitoring treatment of acute and chronic kidney diseases Adjusting dosage of renally excreted medications Monitoring kidney transplant recipients Estimating glomerular filtration rate for people with chronic kidney...

HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies

Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members

MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...

PARDP - Overview: Inherited Parkinson Disease Gene Panel, Varies

Establishing a molecular diagnosis for patients with Parkinson disease Identifying variants within genes known to be associated with Parkinson disease, allowing for predictive testing of at-risk family members

NMEM - Overview: Red Blood Cell Membrane Disorders Gene Panel, Next-Generation Sequencing, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a red blood cell (RBC) membrane disorder Second-tier testing for patients in whom previous targeted gene variant analyses were...

EBLPD - Overview: Epstein Barr Virus (EBV) Susceptibility and Lymphoproliferative Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Epstein-Barr virus (EBV) susceptibility or a heritable predisposition to lymphoproliferative disease Establishing a diagnosis of a...

GATAS - Overview: GATA-Binding Protein 2, GATA2, Full Gene Analysis, Next-Generation Sequencing, Varies

Comprehensive evaluation of the GATA2 gene in patients with clinical or immunological symptoms suggestive of GATA-binding protein 2 (GATA2) deficiency Screening family members of patients with confirmed GATA2 deficiency

ECMP - Overview: Eculizumab Monitoring Panel, Serum

Monitoring of complement blockage by eculizumab Assessing the response to eculizumab therapy Assessing the need for dose escalation Evaluating the potential for dose de-escalation or discontinuation of therapy in remission...

GNANT - Overview: Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies

Evaluating antithrombin AT deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming an AT deficiency diagnosis with the identification of a known or suspected disease-causing...