CaRe provides comprehensive genetic testing for inherited cardiac and renal disorders and includes a wide range of ClinGen monitored genes with recorded clinical applications. The panel covers cardiomyopathies (hypertrophic, dilated, arrhythmogenic), congenital heart disease, arrhythmias (Long QT, Brugada, CPVT), muscular dystrophies with cardiac involvement, RASopathies, and aortic syndromes. 

Inherited nephropathies are addressed by genes responsible for a plethora of clinical manifestations, including familial hematuria, focal segmental glomerulosclerosis, nephrotic range proteinuria, cystic kidneys, tubular acidosis, hemolytic-uremic syndromes, ciliopathy, complement dysfunctions, and metabolic defects. 

Suitable for patients with chronic cardiomyopathies or renal diseases of unknown genetic etiology, the panel supports diagnosis, treatment guidance, and cascade family screening with high confidence. 

Cardio-related genes 

ABCC9, ABCG5, ABCG8, ACTA1, ACTC1, ACTN1, ACTN2, ACVRL1, ADAMTS13, ALPK3, AMER1, ANK2, ANKRD1, ANKRD26, ANO5, AP3B1, ARPC1B, BAG3, BIN1, BLOC1S6, BRAF, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CAPN3, CASQ2, CAV3, CBL, CDC42, CFL2, CHRNG, COL6A1, COL6A2, COL6A3, CRYAB, CSRP3, DAG1, DES, DMD, DNAJB6, DNM2, DSC2, DSG2, DSP, DTNBP1, DYSF, EMD, ENG, ETV6, EYA4, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, FHOD3, FKRP, FKTN, FLNC, FLT4, FOXP3, FXN, GATA1, GATA4, GATA6, GBE1, GFI1B, GGCX, GLA, GP1BA, GP6, GP9, GRIP1, HCN4, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, ITGA2B, ITGB3, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KDM6A, KLKB1, KMT2D, KNG1, KRAS, LAMA2, LAMA4, LAMP2, LARGE1, LDB3, LMAN1, LMNA, LYST, LZTR1, MAP2K1, MAP2K2, MCFD2, MECOM, MEFV, MEGF10, MPL, MTM1, MYBPC3, MYH2, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOZ2, MYPN, NBEAL2, NEB, NEBL, NEXN, NF1, NF2, NGLY1, NIPBL, NKX2-5, NRAS, OCA2, ORAI1, PDLIM3, PIEZO1, PKLR, PKP2, PLG, PLN, POMGNT1, POMGNT2, POMT1, POMT2, PPP1CB, PRDM16, PRKAG2, PROC, PROS1, PTPN11, RAF1, RASGRP2, RBM20, RBM8A, RIT1, RPS10, RPS24, RRAS2, RYR1, RYR2, SCN4A, SCN5A, SEPN1, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC25A4, SMAD2, SMAD3, SMAD4, SOS1, SOS2, SPRED1, STAC3, STIM1, TCAP, TECRL, TGFB3, TGFBR1, TGFBR2, THPO, TMEM43, TMPO, TNNC1, TNNI3, TNNT1, TNNT2, TPM1, TPM2, TPM3, TRAPPC11, TRDN, TRIM32, TSC1, TSC2, TTN, TTR, TUBB1, TUBGCP6, VCL, VIPAS39, VPS33B, VWF 

Nephro-related genes 

ACTN4, ADCK4, AGXT, AHI1, ALG5, ALG8, ALG9, AMN, ANKS6, ANLN, APOA4, APOE, APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL6, ATP1A1, ATP6V0A4, ATP6V1B1, ATP6V1C2, ATXN10, AVIL, AVPR2, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BSND, C21orf2, C3, C5orf42, C8orf37, CASR, CC2D2A, CCDC28B, CD151, CD2AP, CD46, CEP120, CEP164, CEP41, CFB, CFH, CFHR1, CFHR3, CFHR5, CFI, CLCN5, CLCNKB, CLDN10, CLDN16, CLDN19, CNNM2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, CRB2, CSPP1, CTNS, CUBN, CUL3, CYP11B1, CYP11B2, CYP24A1, DCDC2, DDX59, DGKE, DNAJB11, DYNC2H1, DZIP1L, EGF, EHHADH, EVC, EVC2, EXOC8, FAM111A, FAN1, FN1, FOXI1, FRAS1, FXYD2, GANAB, GATM, GLIS2, GRHPR, HMOX1, HNF1B, HNF4A, HOGA1, HYLS1, ICK, IFT122, IFT140, IFT172, IFT43, IFT80, INF2, INPP5E, INVS, IQCB1, ITGA3, JAG1, KANK2, KAT6B, KCNA1, KCNJ1, KCNJ10, KCNJ16, KCNJ5, KIAA0586, KIF14, KIF7, KIRREL1, KLHL3, LAMA5, LAMB2, LMX1B, LRP5, LZTFL1, MAGI2, MITF, MKKS, MUC1, MYH9, MYO1E, NDUFAF6, NEDD4L, NEK1, NEK8, NOS1AP, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C2, NUP107, NUP133, NUP93, NXF5, OCRL, P3H2, PAX2, PKD2, PKHD1, PLCE1, PRKCSH, PTPRO, REN, RPGRIP1L, RRAGD, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC61B, SEC63, SLC12A1, SLC12A3, SLC12A7, SLC22A12, SLC26A1, SLC26A4, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC41A1, SLC4A1, SLC5A1, SLC5A2, SLC7A9, SLC9A3R1, TAZ, TBC1D8B, TCTN1, TCTN2, TCTN3, THBD, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRIM8, TRPC6, TRPM6, TRPM7, TTC21B, TTC8, UMOD, UPK3A, WDPCP, WDR19, WDR34, WDR35, WDR72, WDR73, WNK1, WNK4, WT1, XPNPEP3, ZNF423 

PKD1

PKD1 gene mutations is the most frequent cause of inherited kidney disease. It is a most technically challenging gene to analyze due to the presence of multiple homologous pseudogenes, which can interfere with standard sequencing methods. At biobank.cy, we have developed and validated a specialized protocol to screen the PKD1 gene, ensuring high sensitivity and specificity. Sequencing results are paired to Multiplex Ligation-dependent Probe Amplification (MLPA) analysis of PKD1 for large insertions or deletions identification. This approach drastically reduces the risk of both false positives and missed variants, providing greater reliability for diagnosing autosomal dominant polycystic kidney disease (ADPKD). 

MUC1 

Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 mutations (ADTKD-MUC1) is a rare congenital nephropathy with high prevalence in Cyprus. Mutations in the MUC1 variable number of tandem repeats (VNTR) region make genetic diagnosis almost impossible. biobank.cy in collaboration with the Broad Institute of MIT and Harvard, MA, USA can provide a CLIA-accredited (Clinical Laboratory Improvement Amendments ) screening for VNTR frameshift mutations, using an established assay. 

RFC1 

Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS) is caused by a mutation involving a serial repeat expansion of an AAGGG sequence in the RFC1 gene. Repeats of healthy RFC1 genes typically have consistent nucleotide sequences, but in CANVAS the ratios of A and G are disturbed. Therefore we developed and offer an allele-specific fragment analysis screening of RFC1 repeats as means to establish confident genetic diagnosis in suspected CANVAS cases. 

Familial HyperchoLesterolemia (FHL) panel includes genes responsible for inherited disorders of lipid metabolism, such as familial hypercholesterolemia (types 1–3), abetalipoproteinemia, hypobetalipoproteinemia, hypertriglyceridemia, hyperchylomicronemia, and HDL deficiencies (e.g., Tangier disease). It also covers rare forms of combined hyperlipidemia, hyperlipoproteinemia, and lipid-related syndromes with systemic involvement, including vitamin and hormone regulation, glomerulopathies, and cardio-cerebral complications. FHL is ideal for patients with early-onset dyslipidemia, unexplained cardiovascular events, or a family history of metabolic or vascular pathologies. 

PCSK9, APOB, MTTP, PROP1, PON1, EPHX2, LPL, NRG1, ABCA1, APOA5, LRP5, CETP, APOC2, APOE, CREB3L3, FUT2, LDLR 

Whole Mitochondrial DNA (mtDNA) sequencing can reveal pathogenic variants responsible for a wide spectrum of mitochondrial diseases affecting multiple organ systems. It includes syndromes such as Leigh disease, MELAS, MERRF, NARP, Kearns-Sayre, and mitochondrial myopathies. In addition, mtDNA sequencing detects mutations associated with exercise intolerance, lactic acidosis, cardiomyopathies, optic neuropathies such as Leber Hereditary Optic Neuropathy, sensorineural hearing loss, neurodevelopmental delay, ataxias, epilepsy, and syndromic renal dysfunction. Given the overlapping and variable presentation of mitochondrial disorders, this panel supports comprehensive diagnosis and personalized clinical management in both pediatric and adult patients. 

Whole Exome Sequencing (WES) analyzes all protein-coding regions of the genome, where most known disease-causing variants are located. WES offers a holistic screening of the coding genome to identify the underlying genetic cause of individuals manifesting atypical phenotypes. Eventually, WES aims to assist in clinical decisions and to provide useful information for family members and future planning. Available as Single (proband only), Duo (proband & one parent), or Trio WES (proband & parents), depending on case needs.