Cardiology Genetic Testing Services

Gene panel for Long QT Syndrome now includes 12 genes

Condition	Gene Panel	Further Information
Hypertrophic Cardiomyopathy Print Forms Billing information	MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1	Physician Guide Patient Guide Test Information sheet Medical necessity letter template
Dilated Cardiomyopathy Print Forms Billing information	LMNA, MYH7, TNNT2, ACTC1, DES, MYBPC3, TPM1, TNNI3, ZASP, TAZ, PLN, TTR, LAMP2, SGCD, MTTL1, MTTQ, MTTH, MTTK, MTTS1, MTTS2, MTND1, MTND5, MTND6	Physician Guide Patient Guide Test Information sheet Medical necessity letter template
Long QT Syndrome Updated panel, including LQT11 and LQT12 Print Forms Billing information	1. NextGeneration Sequencing Panel for LQTS: KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, CACNA1C, KCNJ2, CAV3, SCN4B, AKAP9, SNTA1 2. Microarray-based deletion/duplication testing for LQTS: KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, CACNA1C, KCNJ2, CAV3, SCN4B	Physician Guide Patient Guide Test Information sheet Medical necessity letter template
Short QT Syndrome Print Forms Billing information	KCNQ1, KCNJ2, KCNH2	Test Information sheet Medical necessity letter template
Brugada Syndrome Print Forms Billing information	CACNA1C, CACNB2, GPD1L, SCN1B, SCN5A	Physician Guide Patient Guide Test Information sheet Medical necessity letter template
Arrhythmogenic Right Ventricular Cardiomyopathy Print Forms Billing information	DSC2, DSG2, DSP, JUP, PKP2, RYR2,TMEM43	Physician Guide Patient Guide Test Information sheet Medical necessity letter template
Catecholaminergic Polymorphic Ventricular Tachycardia Print Forms Billing information	CASQ2, RYR2	Physician Guide Patient Guide Test Information sheet Medical necessity letter template

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.

How is genetic testing for inherited cardiac disorders performed at GeneDx?

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 the clinical significance of a novel sequence change is unclear, additional in-depth mutation-specific testing is conducted by genotyping a representative, ethnically-matched library of control alleles.
Testing of Selected First Degree Relatives at No Charge When Necessary: When it is critical to have genetic information on family members to determine the clinical significance of a mutation(s), testing of appropriate first degree relatives is performed at no charge to minimize uninformative results, and maximize clinical utility for patients and families.
Result Interpretation and Reporting: Results are analyzed and interpreted at minimum by a geneticist, a cardiologist 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 over 17 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.

What is the significance of follow-up testing for family members?

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 echocardiograms. 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

What is the utility of genetic testing for such diseases?

There are several reasons an individual or family may be referred for genetic testing in HCM. 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 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.

What information could come from performing a genetic test for cardiac disorders?

The table below shows possible outcomes for an individual who opts for genetic testing::

Clinical Presentation	Genetic Testing Result	Interpretation	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.