Table 1.

Summary of patients with new clinical diagnoses after genetic testing (n=9)

PatientFamily HistoryCost to Patient, $DiagnosisGeneTranscriptGenomic Coordinates (GRCh37)ZygosityDNA ChangeProtein ChangeClassification
1Multiple1623ADIKDUMODNM_003361.216:20360507HETc.116C>Ap.A39DPathogenic
2Multiple0ADIKDUMODNM_003361.216:20360507HETc.116C>Ap.A39DPathogenic
3Multiple14AlportCOL4A5NM_033380.1X:107939580HEMIc.5048G>Ap.R1683GPathogenic
4Multiple0TBMN/AlportCOL4A4NM_000092.42:227973304HETc.728G>Ap.G243EPathogenic
5No250GitelmanSCL12A3NM_000339.216:56947205COMP HETc.2981G>Ap.C994WPathogenic
SCL12A3NM_000339.216:56903649COMP HETc.514T>Cp.T172RPathogenic
6No250GitelmanSCL12A3NM_000339.216:56899381COMP HETc.237_238dupp.R80Pfs*35Pathogenic
SCL12A3NM_000339.216:56920278COMP HETc.1928C>Tp.P643LPathogenic
7Multiple250PKDPKD1NM_001009944.216:2160152HETc.5014_5015delp.A1672Gfs*98Pathogenic
8No0Deletion syndromeHNF1B + other genesMultiple17:34856055HET17q12 deletionMultiplePathogenic
9Multiple0MitochondrialMT-TL1NC_012920.1N/AHETplasm.3243A>GN/APathogenic
  • Cost is in US dollars. ADIKD, Autosomal Dominant Interstitial Kidney Disease; HET, heterozygous; HEMI, hemizygous; TBMN, Thin Basement Membrane Nephropathy; COMP HET, compound heterozygote; PKD, Polycystic Kidney Disease; HETplas, heteroplasmic.