Latest Presention on MX-ICP

View the latest presentation on Multiplexed ICE COLD-PCR (MX-ICP) for Detection of Low-Level Mutations in Any Liquid Biopsy Sample using Sanger Sequencing, NGS, or ddPCR by Katherine Richardson, Ph.D. V.P., Research & Development
  • product-image-category-cardiology

Comprehensive Cardiac Channelopathy (CCC)

logo-familionThe FAMILION Comprehensive Cardiac Channelopathy Test sequences 28 genes associated with a broad range of cardiac channelopathies including Long QT Syndrome (LQTS), Brugada Syndrome (BrS), and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). Genetic testing is important for the diagnosis of cardiac channelopathies and cardiac event risk stratification, as well as for the identification of at-risk family members and prevention of cardiac events.

Print Resources

Product Description

The FAMILION Comprehensive Cardiac Channelopathy Test is a complex and highly accurate genetic test that analyzes channelopathy genes for disease-causing DNA variants. Results from this test will enable a comprehensive risk assessment to be conducted for sudden cardiac death and guide treatment decisions, including whether patients can be managed pharmacologically or may require an implanted cardiac defibrillator. The test results are also important for a patient’s family members: if a mutation is identified, then relatives at risk for a cardiac channelopathy can be accurately identified by genetic testing and managed appropriately. The value of genetic testing for cardiac channelopathies has been documented extensively in the medical literature, and American College of Cardiology, American Heart Association, European Society of Cardiology, Heart Rhythm Society, and European Heart Rhythm Association have issued evidence-based practice guidelines recommending genetic testing for all patients with cardiac channelopathies and their potentially at-risk family members.

10000, 10000R

Sequence analysis of the following genes: AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, RANGRF, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1

Test NameTest CodeCPT Code(s)
Comprehensive Cardiac Channelopathy Test1000081280 x1
81404 x1
Comprehensive Cardiac Channelopathy Test with Reflex to LQTS Deletion/Duplication Analysis10000R81280 x1
81282 x1
81404 x1

Genomic DNA is amplified by polymerase chain reaction to generate templates for direct sequencing of the targeted exons and flanking intronic regions of the following genes: AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, RANGRF, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1. This assay will not detect deletions and duplications on the scale of a whole exon or more. When deletion/duplication analysis is ordered, genomic DNA is analyzed by a Multiplex Ligation-dependent Probe Amplification (MLPA®) assay (MRC-Holland) designed to detect large deletions and duplications in the genes KCNQ1 (LQT1), KCNH2 (LQT2, except for exons 2 and 4), KCNE1 (LQT4) and KCNE2 (LQT5). Rare polymorphisms may exist that could interfere with analysis. Interpretation and classification of variants are subject to change in light of new evidence.

The FAMILION Comprehensive Cardiac Channelopathy Test is expected to identify a mutation in 75-80% of LQTS patients, 65-75% of CPVT patients, and 20-30% of Brugada syndrome patients. The FAMILION Comprehensive Cardiac Channelopathy Test will also detect causes of other cardiac channelopathies including Andersen-Tawil syndrome, Early Repolarization, Familial Atrial Fibrillation, Jervell and Lange-Nielsen Syndrome, Sick Sinus Syndrome, Short QT syndrome, and Timothy syndrome.

4-6 weeks for index tests, 2-4 weeks for family tests.

4 ml blood in a plastic EDTA tube shipped at room temperature (recommended)
OR
Oragene saliva collection tube shipped at room temperature.

References:
1. Taggart NW, Haglund CM, Tester DJ, Ackerman MJ. Diagnostic miscues in congenital long-QT syndrome. Circulation. May 22 2007;115(20):2613-2620.
2. Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. Jul 2 2002;106(1):69-74.
3. Napolitano C, Priori SG. Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. Heart rhythm : the official journal of the Heart Rhythm Society. May 2007;4(5):675-678.
4. Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart rhythm : the official journal of the Heart Rhythm Society. Aug 2011;8(8):1308-1339.
5. Zipes DP, Camm AJ, Borggrefe M, et al. ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (writing committee to develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death): developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Circulation. Sep 5 2006;114(10):e385-484.
6. Priori SG, Wilde AA, Horie M, et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart rhythm : the official journal of the Heart Rhythm Society. Dec 2013;10(12):1932-1963.

Order a complimentary Cardiology Specimen collection kit.

Click here to view and/or print the letter of medical necessity.

Statement on Billing Policies

Transgenomic believes health care costs are shared obligations between a patient and the service provider.

Patients actively participate in their own health care by selecting health plans, physicians, pharmacies, etc. As part of that participation, patients agree to pay a percentage of the services and products they use. These payments are contractually obligated and take the form of co-payments and deductibles.

Transgenomic believes no individual or entity should interfere with established contracts between a patient and a third party insurance payer.

An individual chooses the health care coverage and services they need by purchasing health care coverage from a third party insurance provider. When a third party insurance plan defers an individual’s health care costs in exchange for payment (a monthly premium) a contract has been created.

Many states have specific laws barring the interference by outside parties in a contract. For example:

Section 18-13-119 of the Colorado Criminal Code indicates that waiving or reducing of co-payment or deductibles (interference with contractual obligations entered into between the insured and the insurer) is a class 1 petty offense.

Florida Statute § 483.035 and Florida Administrative Code 59A-7.037 indicates no owner, director, administrator, physician, surgeon, consultant, employee, organization, agency, representative, or person either directly or indirectly shall pay or receive any commission, bonus, kickback, rebate or gratuity or engage in any split fee arrangement in any form whatsoever for the referral of a patient.

Massachusetts G.L.c. 111D, § 8(4) indicates a clinical laboratory shall not: (4) offer or give a commission, rebate, or other fee, directly or indirectly to any person as consideration for the referral of a specimen derived from a human body to a clinical laboratory for examination by such laboratory.

In Texas, the State Attorney General has indicated “the payment of benefits under an assignment does not relieve the covered person of contractual responsibility for the payment of deductibles and co-payments. A physician or other health care provider may not waive co-payments or deductibles by acceptance of an assignment.”

Additionally, third party insurance plans have specific language regarding the obligations of the insured:

From Cigna’s Patient’s Bill of Rights: (You have the responsibility to) “Pay all co-pays, deductibles and coinsurance for which you are responsible at the time service is rendered or when they are due.” http://www.cigna.com/member-rights

Transgenomic believes participating with both government and private payers will result in the lowest overall costs to the health care system.

Contracting and accepting both private and Government patients ensures the largest possible number of patients receive needed health care services.

Transgenomic believes no action it takes should jeopardize the patient-physician-provider relationship.

The Affordable Care Act of 2010 states, “A group health plan, or a health insurance issuer offering group or individual health insurance coverage, must not rescind coverage except in the case of fraud or an intentional misrepresentation of a material fact.”

http://healthreform.gov/newsroom/new_patients_bill_of_rights.html

The Insurance Lobby states, “In most states, it is illegal to routinely waive co-pays and deductibles for patients. Health care providers who do this may be charged with the crime of health insurance fraud because they are claiming the wrong amount for services when they make insurance claims. Example: If a patient has a 10 percent co-pay, the insurance company pays $90 on a $100 bill. But if the health care provider waives the co-pay, the patient’s bill is only $90 total, not $100.”

http://www.abramslaw.com/CM/Articles/Automatic-Waiver-of-Copays.asp

Transgenomic believes in providing comprehensive patient services.

No testing begins without the patient’s permission. Transgenomic is an in-network provider with many major insurance carriers to keep the patient’s out-of-pocket expenses as low as possible.

Benefits Investigation – Once we receive a test order, a Patient Services Associate contacts the patient’s insurance carrier to determine insurance benefits. We then contact the patient to explain their benefits and provide an estimate of out-of-pocket expenses.

Insurance Pre-authorization – We work with the patient, their insurance company, and physician to have testing pre-approved. This keeps the patient’s out-of-pocket expenses as low as possible.

Appeals – If the patient’s insurance company rejects the claim, we work with the physician and patient to appeal the decision.

Flexible Payment Plans – Patients may choose one of our flexible payment plans to help manage their out-of-pocket expenses. These are offered with no interest or financing fees. We do not require credit cards up front.

Patients receive consistent discounts across our entire catalogue of tests and not just for certain specialty tests.

Transgenomic believes in business practices that put patients first.

Transgenomic, Inc. ©2012 Transgenomic, Inc. All rights reserved.  Document No. 602216-00 02/12

Commercial PlanMedicare Plans
AetnaAetna
Anthem Blue Cross (BC) CTAnthem BC CT
Blue Cross Blue Shield (BCBS) ALBCBSAL
BCBSHIBCBSHI
BCBSILBCBSMI
BCBSMIBCBSMT
BCBSMTBCBSNC
BCBSNCBCBSTN
BCBSNECoventry
BCBSTNHumana
CoventryMedica Health Plans
Harvard PilgrimSelect Health
HealthChoice - OKTriCare (South and North)
HumanaUnited Healthcare
Medica Health PlansWellmark IA
Select HealthWellmark SD
TriCare (South and North)
United Healthcare
Wellmark IA
Wellmark SD
Medicaid PlansThird Party Administrator (TPA)
AetnaAmerican Choice Provider Network
BCBSHIHealthRisk Resource Group (HRGi)
BCBSILMultiPlan (Beech Street)
BCBSMIPremiere Healthcare Exchange (PHX)
BCBSMTThree Rivers Provider Network
BCBSNC
BCBSTN
Coventry
Humana
Medica Health Plans
Wellmark IA
Wellmark SD