GENETIC TESTING, ACCESS, INTERPRETATION & CLINICAL INTEGRATION

Connecting Genetic Testing to Clinical Care

Cohesion Phenomics provides cardiovascular genetic testing for the adult population and clinical molecular genetics expertise across inherited cardiovascular conditions. Genetic findings are considered within the patient's phenotype, clinical history, and family history to support meaningful interpretation and integration into cardiovascular care.

Cardiovascular Genetic Testing & Clinical Integration
CLINICAL EXCELLENCE

Cardiovascular Genetic Test Menu

Genes included in Cohesion Phenomics genetic tests are selected based on current evidence supporting the gene-disease relationship, the clinical indication for testing, and the technical and analytical capabilities of the laboratory.

Evidence-Based Review

Gene content is periodically reviewed as scientific and clinical evidence evolves and may be modified at the discretion of the Laboratory Director to maintain the clinical validity and relevance of each test. Genetic test composition is therefore subject to change.

Rigorous Sequencing

Testing is performed using Sanger sequencing. Additional methodologies or testing through another laboratory may be recommended when the clinical indication requires analysis not provided by the test ordered.

Customized Testing

Customized genetic testing may be available based on the clinical indication and testing requirements. Contact our laboratory to discuss tailored clinical panels.

CATEGORY 01

Cardiomyopathies

Arrhythmogenic Right Ventricular Cardiomyopathy

ARVC
Clinical Indication

For individuals with clinical findings or a family history suggestive of arrhythmogenic right ventricular cardiomyopathy.

Genes Included
DSC2 DSG2 DSP JUP PKP2 TMEM43
Methodology: Sanger sequencing
Turnaround Time: 6–8 weeks

Arrhythmogenic Cardiomyopathy

ACM
Clinical Indication

For individuals with a suspected arrhythmogenic cardiomyopathy phenotype, including right ventricular, left ventricular, or biventricular disease with ventricular arrhythmia.

Genes Included
DES DSC2 DSG2 DSP FLNC JUP PKP2 TMEM43 LMNA PLN
Methodology: Sanger sequencing
Turnaround Time: 6–8 weeks

Non-ischemic/Dilated Cardiomyopathy

DCM
Clinical Indication

For individuals with otherwise unexplained left ventricular or biventricular dilation and systolic dysfunction or a family history suggestive of inherited dilated cardiomyopathy.

Genes Included
ACTC1 BAG3 DES DSC2 DSG2 DSP FLNC GLA JUP LAMP2 LMNA MYBPC3 MYH7 MYL2 MYL3 PKP2 PLN PRKAG2 RBM20 SCN5A TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TTR
Methodology: Sanger sequencing
Turnaround Time: 6–8 weeks

Hypertrophic Cardiomyopathy

HCM
Clinical Indication

For individuals with unexplained left ventricular hypertrophy or a clinical or family history suggestive of hypertrophic cardiomyopathy.

Genes Included
ACTC1 MYBPC3 MYH7 MYL2 MYL3 TNNC1 TNNI3 TNNT2 TPM1 LAMP2 GLA PRKAG2 TTR PLN
Methodology: Sanger sequencing
Turnaround Time: 6–8 weeks
CATEGORY 02

Inherited Arrhythmias

Brugada Syndrome

BrS
Clinical Indication

For individuals with a clinical or electrocardiographic phenotype suggestive of Brugada syndrome or a family history of the disorder.

Gene Included
SCN5A
Methodology: Sanger sequencing
Turnaround Time: 6–8 weeks

Catecholaminergic Polymorphic Ventricular Tachycardia

CPVT
Clinical Indication

For individuals with exercise- or emotion-induced ventricular arrhythmias, exertional syncope, unexplained cardiac arrest, or a family history suggestive of CPVT.

Genes Included
RYR2 CASQ2 TRDN TECRL
Methodology: Sanger sequencing
Turnaround Time: 6–8 weeks

Long QT Syndrome

LQTS
Clinical Indication

For individuals with QT prolongation, unexplained syncope, ventricular arrhythmia, cardiac arrest, or a personal or family history suggestive of inherited Long QT syndrome.

Genes Included
KCNH2 KCNQ1 SCN5A
Methodology: Sanger sequencing
Turnaround Time: 6–8 weeks

Sudden Cardiac Arrest / Sudden Cardiac Death

SCA/SCD
Clinical Indication

For individuals with unexplained sudden cardiac arrest, resuscitated cardiac arrest, or a family history of unexplained sudden cardiac death when an inherited cardiovascular disorder is suspected but a specific phenotype has not been established.

Genes Included

A phenotype-directed panel of genes with established associations with inherited cardiomyopathies and primary electrical disorders, including:

BAG3 CASQ2 DSC2 DSG2 DES DSP FLNC KCNH2 KCNQ1 LMNA MYBPC3 MYH7 PKP2 PLN RBM20 RYR2 SCN5A TNNC1 TNNI3 TNNT2
Methodology: Sanger sequencing
Turnaround Time: 6–8 weeks
CATEGORY 03

Heritable Aortic & Connective Tissue Disorders

Marfan Syndrome

MFS
Clinical Indication

For individuals with clinical findings or a family history suggestive of Marfan syndrome, including aortic root dilation or dissection in association with characteristic systemic findings.

Gene Included
FBN1
Methodology: Sanger sequencing
Turnaround Time: 6–8 weeks

Loeys-Dietz Syndrome

LDS
Clinical Indication

For individuals with aortic or arterial aneurysm, dissection, arterial tortuosity, or other clinical findings suggestive of Loeys-Dietz syndrome.

Genes Included
SMAD3 TGFBR1 TGFBR2
Methodology: Sanger sequencing
Turnaround Time: 6–8 weeks

Vascular Ehlers-Danlos Syndrome

vEDS
Clinical Indication

For individuals with clinical or family history suggestive of vascular Ehlers-Danlos syndrome, including arterial, intestinal, or uterine fragility, characteristic skin findings, or otherwise unexplained arterial rupture or dissection.

Gene Included
COL3A1
Methodology: Sanger sequencing
Turnaround Time: 6–8 weeks

Familial Thoracic Aortic Aneurysm and Dissection

FTAAD
Clinical Indication

For individuals with thoracic aortic aneurysm or dissection and a personal or family history suggestive of heritable thoracic aortic disease.

Genes Included
ACTA2 COL3A1 FBN1 SMAD3 TGFBR1 TGFBR2
Methodology: Sanger sequencing
Turnaround Time: 6–8 weeks
IMPORTANT TEST INFORMATION

Turnaround time begins after test prior authorization is obtained indicating that the test is considered medically necessary and covered by the insurance company.

PATIENT ACCESS & COVERAGE

Market Access & Reimbursement

Access to genetic testing depends not only on clinical appropriateness, but also on navigating payer coverage, medical necessity requirements, prior authorization, and reimbursement.

Cohesion Phenomics brings experience in the coverage and reimbursement landscape surrounding genetic testing to help address barriers that can delay or prevent access.

Market access considerations can be incorporated throughout the testing process, including:

  • Benefits and eligibility
  • Coverage assessment
  • Prior authorization
  • Medical necessity requirements
  • Documentation
  • Payer communication
  • Reimbursement considerations
COVERAGE & POLICIES

Insurance, Prior Authorization & Billing

Clear, transparent workflows to support patients and providers through insurance verification, coverage requirements, and claims.

Prior Authorization

When required by the patient's health plan, Cohesion Phenomics coordinates prior authorization (PA) before genetic testing is initiated. Prior authorization may be submitted directly to the patient's insurance plan or to the laboratory benefit manager designated by the plan.

Testing will proceed after the required authorization has been obtained and coverage requirements have been met. Patients and referring providers may receive documentation of the authorization determination directly from the insurance plan.

If prior authorization is denied, Cohesion Phenomics can assist with appropriate appeals when additional clinical information or documentation may support reconsideration.

Claims & Billing

Cohesion Phenomics bills genetic testing services using applicable CPT Tier 2 Molecular Pathology codes and submits claims directly to participating insurance plans. When an applicable CPT code is not available for a genetic testing service, Cohesion Phenomics does not submit the service to the patient’s insurance plan for reimbursement. Testing may be available on a self-pay basis. In some circumstances, assistance from the patient or referring provider may be requested to resolve claims that remain unpaid or require additional information.

Prior authorization does not guarantee payment. Final coverage and payment are determined by the patient's health plan in accordance with the terms of the patient's benefits and applicable coverage policies.

Patients are responsible for applicable deductibles, copayments, coinsurance, and other out-of-pocket costs as determined by their individual health plan.

Participating Insurance Plans

Cohesion Phenomics is currently in network with:

Aetna Ambetter Blue Cross and Blue Shield of North Carolina MedCost

Cohesion Phenomics does not currently accept Medicare or Medicaid.

Insurance participation and coverage may vary by plan and are subject to change. Please contact the laboratory for current participation and coverage information.

Specimen Acceptance

Cohesion Phenomics currently accepts patient specimens collected within North Carolina. Specimens collected outside North Carolina cannot be accepted for testing at this time.

Please contact the laboratory with questions regarding insurance coverage, prior authorization, billing, or specimen eligibility.

RESOURCES & SUPPORT

Provider & Clinic Resources

FORMS

Requisitions & Forms

Access laboratory requisitions, patient registration forms, informed consent forms, insurance authorization documents, and other required paperwork.

LOGISTICS

Specimen & Shipping

Review specimen requirements, collection and labeling instructions, packaging requirements, and shipping information.

GET IN TOUCH

Genetic Testing Inquiry

Connect directly with our clinical molecular genetics team regarding test selection, eligibility, or case review.

CLINICAL INTEGRATION

Interpretation & Clinical Integration

Cohesion Phenomics brings clinical molecular genetics expertise to the interpretation of genetic findings within the context of phenotype, medical history, family history, and the clinical indication for testing.

This clinical-molecular approach connects genetic information back to cardiovascular care, where findings can inform the management and treatment of patients and their families.

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