Genetic heart diseases affect the structure and function of the heart and blood vessels, impacting around 1 in 100 people worldwide. Early detection of these inherited conditions is crucial, as they can often be silent yet carry significant risks if left undiagnosed.
CardioStrands offers comprehensive genetic testing to uncover the underlying causes of cardiovascular disease, helping clinicians tailor management and empowering families with knowledge about their heart health.
The conditions tested fall into four main categories:
Cardiomyopathies – disorders of the heart muscle (e.g., hypertrophic, dilated, restrictive cardiomyopathy)
Arrhythmias – abnormalities of the heart’s electrical rhythm (e.g., Long QT syndrome, Brugada syndrome)
Aortopathies – genetic disorders affecting the aorta and blood vessels (e.g., Marfan syndrome, Loeys-Dietz syndrome)
Familial Hypercholesterolemia (FH) – an inherited condition leading to extremely high cholesterol and increased risk of early heart disease
1. Free Cascade Testing
– If a pathogenic variant is identified, up to 3 family members can be tested at no cost within 150 days.
2. NGS Technology
– Ensures high sensitivity and accuracy with targeted gene sequencing.
3. Pharmacogenetic Screening
– Includes SLCO1B1 variant to assess statin-induced myopathy risk.
4. Report Includes
– Detailed variant classification (Pathogenic, Likely Pathogenic, Variant of Uncertain Significance, Benign), clinical interpretation, and recommended next steps.
With CardioStrands, clinicians and patients gain access to precise genetic insights that support early intervention, informed treatment, and proactive family screening. We offer two specialized testing options:
FH Comprehensive Panel
Covers 40 genes associated with Familial Hypercholesterolemia (FH)
Includes 1 pharmacogenomics (PGx) gene locus to guide treatment response
Cardiogenetics Comprehensive Panel
A broad analysis of 254 genes linked to inherited heart diseases, including cardiomyopathies, arrhythmias, and aortopathies
Familial Hypercholesterolemia (FH) is a common yet underdiagnosed genetic disorder that drives early-onset cardiovascular disease. The CardioStrands FH Comprehensive Panel provides a comprehensive genetic assessment of FH, phenocopies, and other rare lipid disorders. It includes genes with preliminary evidence and pharmacogenetic marker for statin response. This panel covers 41 genes, including all known FH-related genes, to deliver a more complete picture of inherited cholesterol disorders. 
| FH Comprehensive Panel Gene List |
|---|
| ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA4, APOA5, APOB, APOC2, APOC3, APOE, ATF6, CETP, CREB3L3, CYP27A1, CYP7A1, GALNT2, GCKR, GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LIPG, LIPI, LMF1, LPL, LRP6, MTTP, MYLIP, OSBPL10, PCSK9, PLTP, PNPLA2, SAR1B, SCARB1, SLCO1B1, USF1, ZHX3 |
The Cardiogenetics Comprehensive Panel offers an extensive genetic testing solution for genetic cardiovascular conditions. This panel covers all major cardiovascular disorders, including Familial Hypercholesterolemia (FH), Cardiomyopathies, Arrhythmias, and congenital diseases related to the heart.
The gene list has been curated and validated based on the latest clinical practice guidelines for each condition. Early detection and precise diagnosis can significantly improve patient outcomes through personalized medical management and proactive family screening to identify family members who are at risk. Additionally, family members without the mutation will be discharged from further clinical surveillance.
| Specimen Requirements | |
|---|---|
| Type of sample | 3ml Blood (EDTA Tube) |
| Patient requirement | No fasting required |
| Storage & transportation | Store and transport in ROOM TEMPERATURE. If the sample cannot be transported to the laboratory on the same day of collection, please store it at 2°C to 8°C. |
| Turnaround Time (TAT) | 14 – 21 working days |
| No. | Condition | Gene Name |
|---|---|---|
| 1 | Aortopathy | FBN1, HCN4, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 |
| 2 | Arrythmia | CACNA1D |
| 3 | Arrythmogenic Right Ventricular Cardiomyopathy (ARVC) | ACTN2, ANK2, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LMNA, MYBPC3, MYH7, MYL3, PKP2, PLN, SCN5A, TGFB3, TJP1, TMEM43, TTN |
| 4 | Brugada Syndrome (BrS) | KCNH2, SCN5A |
| 5 | Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) | ANK2, CALM1, CALM2, CALM3, CASQ2, PKP2, RYR2, SCN5A, TECRL, TRDN |
| 6 | Dilated Cardiomyopathy (DCM) | ABCC9, ACADVL, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, BAG3, CAMK2D, CAP2, CASZ1, CHRM2, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FLII, FLNC, GATA6, GATAD1, HAND1, HCN4, ILK, JUP, LAMA4, LAMP2, LDB3, LMNA, LMOD2, LRRC10, MMUT, MYBPC3, MYH6, MYH7, MYLK3, MYPN, MYZAP, NEBL, NEXN, NKX2-5, NPPA, NRAP, OBSCN, PCCA, PCCB, PDLIM3, PLN, PPCS, PRDM16, PSEN1, PSEN2, RAF1, RBM20, RHBDF1, RPL3L, RRAGC, RRAGD, SCN5A, SDHA, SGCD, SLC22A5, SLC6A6, SPEG, TAB2, TAFAZZIN, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TXNRD2, VCL |
| 7 | Hypertrophic Cardiomyopathy (HCM) | ACADVL, ACTC1, ACTN2, AGL, ALPK3, ANKRD1, BAG3, CACNA1C, CACNB2, CASQ2, COA5, COX15, CPT2, CRYAB, CSRP3, DES, DSP, ELAC2, FHL1, FHL2, FHOD3, FLNC, FXN, GAA, GATA4, GLA, GUSB, GYG1, HADHA, HADHB, JPH2, KLHL24, LAMP2, MLYCD, MMUT, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYPN, OBSCN, PLN, PRKAG2, RPS6KB1, SLC25A4, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM55, TRIM63, TTR, TULP3 |
| 8 | Lipidemia | ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA4, APOA5, APOC2, APOC3, APOE, CETP, CREB3L3, CYP27A1, CYP7A1, GALNT2, GCKR, GPD1, GPIHBP1, LCAT, LDLRAP1, LIPA, LIPC, LIPG, LIPI, LMF1, LPL, LRP6, MTTP, MYLIP, PLTP, PNPLA2, SAR1B, SCARB1, ZHX3 |
| 9 | Lipidemia-basic | APOB, LDLR, PCSK9 |
| 10 | Lipidemia-NPM | ATF6, OSBPL10, USF1 |
| 11 | Lipidemia-PGx-rs4149056 | SLCO1B1 |
| 12 | Loeys-Dietz Syndrome (LDS) | FBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 |
| 13 | Long QT Syndrome (LQTS) | AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN |
| 14 | Marfan Syndrome | FBN1 |
| 15 | Non-dilated Left Ventricular Cardiomyopathy (NDLVC) | ACTC1, ACTN2, ALPK3, CHRM2, DES, DMD, DMPK, DSP, DTNA, GATA6, HAND1, HCN4, LAMP2, LDB3, LMNA, MIB1, MYBPC3, MYH7, NKX2-5, NNT, NONO, OBSCN, PLEKHM2, PLN, PRDM16, RBM20, RYR2, SCN5A, TAFAZZIN, TBX20, TBX5, TMEM70, TNNT2, TPM1, TTN |
| 16 | Pulmonary Arterial Hypertension (PAH) | ABCC8, ACVRL1, AQP1, ATP13A3, BMP10, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FBLN2, GDF2, GGCX, KCNA5, KCNK3, KDR, KLF2, KLK1, NFU1, PDGFD, SARS2, SMAD9, SOX17, TBX4, TET2 |
| 17 | RASopathy and Noonan | BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAP4K4, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRED2 |
| 18 | Short QT Syndrome (SQTS) | CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1, SCN5A, SLC22A5, SLC4A3 |
| 19 | Thrombosis | F2, F5, F9, PROC, PROS1, SERPINC1 |
Allow us 2-3 days on weekends to tend to your enquiry.
Phone:
+603-7491 1700
Hotline:
+6019-600 2700
Fax:
+603-7499 3997
Our Services
Our Tests
Phone: +603-7491 1700
Hotline: +6019-600 2700
Fax: +603-7499 3997
Monday-Friday
8.30 am – 5.30 pm
Saturday
8.30 am – 1.00 pm