PCGP - Overview: Porphyria Comprehensive Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of porphyria Establishing a molecular diagnosis for patients with porphyria Identifying variants within genes known to be associated with porphyria, allowing for predictive testing of...
PCDGG - Overview: Primary Ciliary Dyskinesia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of primary ciliary dyskinesia Establishing a diagnosis of primary ciliary dyskinesia
TTRZ - Overview: TTR Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with amyloidosis Identifying variants within TTR known to be associated with amyloidosis, allowing for predictive testing of at-risk family members
PRKSG - Overview: PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance
AHLP - Overview: AudioloGene Hearing Loss Panel, Varies
Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members
NEPHP - Overview: Comprehensive Nephrology Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary kidney disease Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis,...
CMITO - Overview: Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies
Diagnosing mitochondrial disease that results from variants in either nuclear-encoded genes or the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial...
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...