Cardiology Genetics
Cardiology Genetic Testing Services
Condition
Gene Panel
Further Information
ACTC, CAV3, GLA, LAMP2, MTTG, MTTI, MTTK, MTTQ, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TTR
ACTC1, ACTN2, ANKRD1, CSRP3, DES, EMD, LAMP2, LMNA, MTND1, MTND5, MTND6, MTTD, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH7, NEXN, PLN, RBM20, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ZASP
1. NextGeneration Sequencing Panel for LQTS: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1
2. Microarray-based deletion/duplication testing for LQTS: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1
CACNA1C, CACNB2, GPD1L, KCNE3, SCN1B, SCN3B, SCN5A
DSC2, DSG2, DSP, JUP, PKP2, RYR2,TMEM43
1. ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2 Sequencing
2. FBN1, TGFBR1, TGFBR2 Deletion/Duplication Testing
BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SOS1, SHOC2 (S2G mutation only)
ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A
ACVR2B, CFC1, CRELD1, FOXH1, GDF1, GJA1, LEFTY2, NKX2-5, NODAL, ZIC3
GeneDx now offers genetic testing services for Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Long QT Syndrome, Brugada Syndrome, Arrhythmogenic Right Ventricular Cardiomyopathy and Catecholaminergic Polymorphic Ventricular Tachycardia. GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Our advanced technologies paired with patient-friendly billing services allow us to keep the cost of each test as low as possible. GeneDx accepts any commercial insurance in the US for cardiology genetic testing services, and works with insurance companies to make sure that the out of pocket cost for the patient is minimized as much as possible. While being cost-effective, our tests use highly sensitive technology and results are analyzed by board-certified cardiologists and geneticists.
Click the questions below for the answer
A:Once a specimen is received at GeneDx, it goes through the following steps:
- Next Generation Sequencing: Multiple genes offered in a test panel are analyzed simultaneously using a new technology developed for high-throughput sequencing (“next generation sequencing”) to achieve high sensitivity with high efficiency. This method is also flexible and permits adding new genes to the existing panel without delay or significant cost increase.
- Confirmation of Results by Dideoxy Sequencing: All mutations identified by next generation sequencing are confirmed by traditional dideoxy sequencing, or another appropriate method.
- Additional Studies to Evaluate Variants of Unknown Significance (VOUS): When indicated, the presence or absence of novel sequence variants in representative, ethnically-matched control populations is evaluated using either publicly available resources or targeted laboratory studies.
- Result Interpretation and Reporting: Results are analyzed and interpreted at minimum by a geneticist and a genetic counselor, and are then reported to the ordering physician.
- Experts Are Only a Phone Call or Email Away: At GeneDx, our technical services are matched by our expertise and customer support. Our growing staff includes more than 30 experts in molecular and clinical genetics, cardiology and genetic counseling, who are just a phone call or email away. Our team works together on each individual case to provide unequivocal test sensitivity, efficiency and expertise. Genetic counselors are available to answer your questions and help manage patient cases through the testing experience.
A:Identification of a disease-causing mutation in an affected individual allows for mutation-specific genetic testing of at-risk family members. This includes family members who are clinically asymptomatic and who may have normal cardiac evaluations. Knowing whether at-risk family members harbor the disease-causing mutation can provide information for subsequent medical management and treatment, risk-assessments and prenatal diagnosis in future pregnancies if desired.
For more information on carrier testing, please click here.
For more information on prenatal diagnosis, please click here.
A:There are several reasons an individual or family may be referred for genetic testing in cardiac disorders. Genetic testing in a clinically affected patient can clarify the diagnosis, assist in treatment decisions and stratify risk management of family members. Diagnostic genetic testing can also help in differential diagnosis. For example, genetic testing in patients with symptoms of HCM can differentiate hereditary HCM from heart disease due to other causes, such as “Athlete’s Heart” and from HCM associated with mutations in sarcomeric genes from phenocopies, such as Fabry disease and Amyloidosis. Mutation-specific testing assists in risk assessment of asymptomatic family members, and if desired, prenatal testing is available.
A:The table below shows possible outcomes for an individual who opts for genetic testing::
Clinical Presentation
Genetic Testing Result
Patient should continue to be followed by a cardiologist.
Management
Recommendations for Family Members
+
Positive
True positive. Mutation identified is disease-causing.
Patient should continue to be followed by a cardiologist.
Testing of family members is recommended. Those with negative results are not at an increased risk for the disease.
+
Negative
Genetic testing does not rule out the disease.
Patient should continue to be followed by a cardiologist
Testing of family members not indicated, however, clinical follow up is recommended.
+
VOUS
Genetic testing at this time is uninformative.
Patient should continue to be followed by a cardiologist. Testing of additional family members is necessary.
If symptomatic family members are found to have the same variant, it is more likely that the variant is disease-causing. If symptom free family members have the same variant, it is more likely that the variant is benign.
-
Positive
Patient is at risk for developing the disease
Patient should have follow-up evaluation and surveillance to assess risk.
Testing of family members is recommended. Those with negative results are not at an increased risk for the disease.
-
Negative
Patient is unlikely to be at an increased risk for the disease.
Additional follow-up not necessary. Recommendations should be made based on extended family history.
Testing of family members is not indicated.
-
VOUS
Genetic testing at this time is uninformative.
Dependent on additional testing of family members.
If symptomatic family members are found to have the same variant, it is more likely that the variant is disease-causing. If symptomfree family members have the same variant, it is more likely that the variant is benign.
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