TRICARE Operations Manual 6010.62-M, April 2021
Demonstrations, Pilot Projects, and Value-Based Initiatives
Chapter 18
Section 2
DefenseHealth Agency (DHA) Evaluation Of Non-United States (US) Food andDrug Administration (FDA) Approved Laboratory Developed Tests (LDTs)Demonstration Project
Copyright:CPT only © 2006 American MedicalAssociation (or such other date of publication of CPT).All Rights Reserved.
Revision:
1.0PURPOSE
The purpose of this demonstrationproject is to improve the quality of health care services for TRICARE beneficiaries.This demonstration is intended to evaluate whether it is feasiblefor the Department of Defense (DoD) to review LDTs which have notreceived US FDA medical device 510(k) clearance or premarket approval(therefore considered non-FDA approved) to determine if they meetTRICARE requirements for safety and effectiveness according to thehierarchy of reliable evidence (32 CFR 199.4(g)(15)(i)(C) and 32 CFR 199.2(b)), or TRICARE’s rare diseasepolicy (32 CFR 199.4(g)(15)(ii)) in the case of LDTsused in the diagnosis or medical management (MM) of a rare disease,and otherwise meet TRICARE criteria for coverage. Those that dowill be covered as a benefit under this demonstration. The demonstrationproject will evaluate feasible alternatives to FDA approval to support modificationsto 32 CFR 199.4(g)(15)(i)(A) to allow coveragefor non-FDA approved LDTs that otherwise meet the TRICARE requirementsfor safety and effectiveness. The DoD had a demonstration projectto test this same provision for LDTs with a Centers for Medicareand Medicaid Services (CMS) national or local coverage determinationthat were submitted by laboratories for consideration for coverageunder TRICARE. However, this demonstration evaluates the feasibilityof establishing a cost-effective and efficient way to review anexpanded pool of non-FDA approved LDTs prioritized based on theirpotential high utilization and clinical utility within the TRICAREpopulation. This demonstration project also extends coverage forpreconception and prenatal Cystic Fibrosis (CF) carrier screening,when provided in accordance with the most current American Collegeof Obstetricians and Gynecologists (ACOG) guidelines in order toallow the DoD to establish whether there is a benefit to offeringsuch testing to TRICARE beneficiaries. The demonstration projectwill operate throughout the Continental United States (CONUS), andin the TRICARE overseas regions.
2.0BACKGROUND
2.1On June18, 2014, a notice was published in the Federal Register (79FR 34726) announcing the start of a demonstration project in whichthe DHA will review LDTs which have not received FDA clearance orapproval to determine if they meet TRICARE requirements for safetyand effectiveness according to the hierarchy of reliable evidenceor TRICARE’s rare disease policy as stated above and approve thosethat do for cost-sharing under this demonstration. DHA will conductan annual evaluation to determine how many of these non-FDA approvedLDTs were provided to beneficiaries across all TRICARE regions.The evaluation will also include a review of the LDT examinationand recommendation process to assess feasibility, resource requirements,and cost-effectiveness of the DHA establishing an internal safetyand efficacy review process for these LDTs for TRICARE cost-sharing purposes.These results will provide an evaluation of the potential improvementof the quality of health care services for beneficiaries who wouldnot otherwise have access to these safe and effective tests. Basedon the results, DHA will decide whether or not to modify 32 CFR 199.4(g)(15)(i)(A) to remove the restrictionfor non-FDA approved LDTs and permit TRICARE cost-sharing of LDTsthat are found to otherwise meet TRICARE requirements for safetyand effectiveness.
2.2This demonstrationproject also extends coverage for preconception and prenatal CFcarrier screening, when provided in accordance with the most currentACOG guidelines. This demonstration project allows the DoD to establishwhether there is a benefit to offering such testing as part of thefamily planning genetic testing benefit at 32 CFR 199.4(e)(3)(ii), the maternity benefitat 32 CFR 199.4(e)(16), or otherwise as a specialbenefit. By extending coverage for CF carrier screening in accordancewith the most current ACOG guidelines under this demonstration project,the DoD will be able to gather the necessary data to evaluate whetherthere is a benefit to offering such screening, including evaluatingthe impact on follow-on care that a patient is given based on testingresults and any other identified benefits of the testing. The Director,DHA, or designee, will issue guidelines for the collection of datainvolving individual cases of CF carrier screening covered underthis demonstration, as necessary, for evaluation of the benefitsresulting from such screening.
2.3Accordingto 32 CFR 199.4(g)(15)(i)(A), the DHA may notcost-share medical devices, including LDTs, if the tests are non-FDAapproved, that is, they have not received FDA marketing 510(k) clearanceor premarket approval. LDTs with FDA approval are available forcost-sharing under the TRICARE Basic Program as long as they otherwise meetTRICARE criteria for coverage.
2.4An LDTis an In Vitro Diagnostic (IVD) that is designed, manufactured,and used within a single laboratory. In the past, these were relativelysimple tests used within a single laboratory, usually at a locallarge hospital or academic medical center, to diagnose rare diseasesor for other uses to meet the needs of a local patient population.Today, these tests may be highly complex. LDTs range from identifyingone specific gene to identifying just a variant of the gene, whileothers can assess a person’s risk of developing specific cancersor diseases. For purposes of this demonstration, LDTs approved forcoverage under the TRICARE Program are identified by the test’s nameor by the specific gene they test for as detailed in Figure 18.2-1.
2.5Laboratories are assessed andaccredited under minimum quality standards set by CMS under theClinical Laboratory Improvement Amendments (CLIA) of 1988. CMS regulateslaboratories that use non-FDA approved LDTs as well as FDA approvedtests. Laboratories performing moderate or high complexity testsare subject to specific regulatory standards governing certification,personnel, proficiency testing, patient test management, qualityassurance, quality control, and inspections. CLIA certificationand periodic inspections evaluate whether the laboratory has determinedthe analytical validity of the tests they offer, including LDTs.Analytical validity refers to how well a test performs in the laboratory;that is, how well the test measures the properties or characteristicsit is intended to measure. CLIA certification does not, however,assure a device is safe and effective for its intended use, or imposeany type of post-market surveillance or adverse event reportingrequirements.
2.6On December 27, 2011, the DoDpublished a notice in the Federal Register (76 FR 80905-80907), announcing the TRICARE Evaluation of CMS Approved LaboratoryDeveloped Tests (LDTs) Demonstration Project. LDTs for this demonstrationwere limited to only those that had a CMS national or local coveragedetermination and significantly informed clinical decision makingfor surveillance, surgical interventions, chemotherapy, or radiationtherapy for cancer. The demonstration project was based on interestedlaboratories submitting their LDTs for consideration. Limited participationfrom industry in the demonstration served as a constraining factorand did not provide sufficient data for the DoD to make an affirmativedecision regarding the feasibility of developing a cost-effectiveand efficient method of reviewing non-FDA approved LDTs for safetyand efficacy. This three year demonstration will continue untilit expires or is terminated via separate notice and LDTs coveredunder the current demonstration will continue to be covered.
3.0POLICY
3.1This demonstrationproject was initiated by the DHA to review non-FDA approved LDTsto determine if they meet TRICARE requirements for safety and effectivenessaccording to the hierarchy of reliable evidence (32 CFR 199.4(g)(15)(i)(C) and 32 CFR 199.2(b)), or TRICARE’s rare diseasepolicy (32 CFR 199.4(g)(15)(ii)) in the case of LDTsused in the diagnosis or MM of a rare disease, and otherwise meetTRICARE criteria for coverage and approve those that do for cost-sharingunder this demonstration. The demonstration evaluates an expandedpool of non-FDA approved LDTs. For example, LDTs evaluated underthe new demonstration are not limited to those associated with cancerand do not require a CMS national or local coverage determination.Further, consideration of specific gene testing as part of the ongoingdemonstration, discussed above, does not also prevent considerationunder this demonstration.
3.2DHA willprioritize and review non-FDA approved LDTs for analytical validity,clinical validity, and clinical utility. DHA will base LDT reviewson the TRICARE hierarchy of reliable evidence to determine whetherthe specific test is proven safe and effective.
3.3Reliable evidence is definedin 32 CFR 199.2(b) and includes:
3.3.1Well-controlled studies ofclinically meaningful endpoints, published in refereed medical literature;
3.3.2Published formal technologyassessments;
3.3.3The published reports of nationalprofessional medical associations;
3.3.4Publishednational medical policy organization positions; and
3.3.5The published reports of nationalexpert opinion organizations. The hierarchy of reliable evidenceof proven medical effectiveness, established by paragraphs 3.3.1 through 3.3.5,is the order of the relative weight to be given to any particularsource. With respect to clinical studies, DHA will only considerthose reports and articles containing scientifically valid dataand published in the refereed medical and scientific literatureas meeting the requirements of reliable evidence. Specifically notincluded in the meaning of reliable evidence are reports, articles, orstatements by providers or groups of providers containing only abstracts,anecdotal evidence, or personal professional opinions. Also, notincluded in the meaning of reliable evidence is the fact that aprovider or a number of providers have elected to adopt a drug,device, or medical treatment or procedure as their personal treatmentor procedure of choice or standard of practice.
3.4DHA may also review non-FDAapproved LDTs under the new demonstration project for use in the diagnosisor MM of a rare disease. TRICARE defines a rare disease as any diseaseor condition that has a prevalence of less than 200,000 personsin the US. Due to the rare nature of the condition and lack of clinicalresearch, the hierarchy of reliable evidence may not be met. Inaccordance with 32 CFR 199.4(g)(15)(ii), DHA and/or the contractorreviews benefits for rare diseases on a case-by-case basis. In reviewingproposed benefits for rare diseases under the demonstration, consistentwith TRICARE’s rare disease policy, any or all of the followingsources are consulted to determine if the proposed non-FDA approvedLDT for a rare disease is considered safe and effective:
•Trials published in refereedmedical literature;
•Formal technology assessments;
•National medical policy organizationpositions;
•National professional associations;and
•National expert opinion organizations.
3.5CF Carrier Screening
3.5.1This demonstration projectextends coverage for preconception and prenatal CF carrier screening,as well as the follow-on prenatal CF diagnostic genetic testing,such as amniocentesis, chorionic villus sampling, or cordocentesis,when provided in accordance with the most current ACOG guidelines,in order to allow the DoD to establish whether there is a benefitto offering such testing to TRICARE beneficiaries. CF carrier screeningis covered from January 1, 2013, through the end of the demonstrationin order to obtain sufficient data to be able to conduct a costbenefit analysis of providing this screening for our beneficiarypopulation. Additionally, the CF screening test is exempt from thepreauthorization requirements of this demonstration. Due to thevolume of CF screening tests performed in the TRICARE population,it is not practicable or cost-effective for these tests to be preauthorized. Instead,the contractor shall ensure the test is provided in accordance withthe most current ACOG guidelines. For example, if a patient hasbeen screened previously, the contractor shall ensure CF screeningresults are documented and not repeat the test.
3.5.2Preconception and prenatalCF carrier screening is excluded from the TRICARE Basic Program regardlessof whether an FDA approved kit or non-FDA approved test is utilized.
3.6Non-FDA approved LDTs approvedby the Director, DHA, or designee, during the demonstration period, asoutlined in Figure 18.2-1, will become available for cost-sharingfor qualified TRICARE beneficiaries during the demonstration periodwhen performed by CLIA certified labs. However, the contractor shallcost-share non-FDA approved LDTs covered under the LDT demonstrationfor qualified TRICARE Overseas Program (TOP) beneficiaries whenperformed by either CLIA certified laboratories or laboratoriesthat are assessed by the TOP contractor to be in accordance withthe host nation’s credentialing/accreditation standards when thosestandards for credentialing/accreditation are comparable to CLIAstandards
3.7Non-FDA approved LDTs thatlack sufficient reliable evidence for safety and efficacy basedon the TRICARE hierarchy of reliable evidence will remain excludedfrom TRICARE coverage.
3.8DHA willnotify the contractor regarding publication of non-FDA approvedLDT eligibility for cost-sharing. See Figure 18.2-1. The codes listedin Figure 18.2-1 whichare on the No Government Pay Procedure Code List (NGPL) but payableunder this demonstration project will remain on the NGPL, sincethese non-FDA approved LDTs are not covered under the TRICARE BasicProgram. Non-FDA approved LDTs listed in Figure 18.2-1 may be covered onlyas part of the demonstration project as denoted with the SpecialProcessing Code (SPC) L2.
3.9The contractorshall cost-share all medical care and treatment associated withthe LDT approved under the demonstration in the same manner it wouldany other care or treatment associated with the provision of medicallynecessary and appropriate care if the following conditions are met:
3.9.1The Director, DHA (or designee)approved the specific non-FDA approved LDT for cost-sharing to eligibleTRICARE beneficiaries; and
3.9.2The contractorhas preauthorized the LDT approved under the demonstration, whenrequired, and verified that the TRICARE authorized provider hasdetermined the eligible patient’s medical need for the LDT in accordancewith all indications detailed in Figure 18.2-1; and
3.9.3The contractorhas verified that the patient’s clinical diagnoses support the medicalneed and are fully documented according to and consistent with allindications detailed in Figure 18.2-1; and
3.9.4The contractorhas, as noted in TRICARE Policy Manual (TPM), Chapter 1, Section 6.1, for dual eligible beneficiaries,applied all requirements when TRICARE is primary payer. As secondarypayer under the TRICARE Dual Eligible Fiscal Intermediary Contract(TDEFIC), the contractor shall rely on and not replicate Medicare’s determinationof medical necessity and appropriateness in all circ*mstances whereMedicare is primary payer. In the event that TRICARE is primarypayer for these services and preauthorization, when required, wasnot obtained, the contractor shall obtain the necessary informationand perform a retrospective review.
3.10The contractor shall ensuregenetic counseling is provided by TRICARE-authorized providers andprecede the actual LDT, in accordance with the TPM, Chapter 6, Section 3.1. The contractor shallnot use the LDT SPC for genetic counseling claims.
3.11BRCA1 or BRCA2 Genetic Counselingand Testing
3.11.1The contractor shall not chargea copayment or cost-share for genetic counseling rendered by a TRICARE-authorizedprovider that precedes BRCA1 or BRCA2 gene testing performed asa preventive service for women who are identified as high risk forbreast cancer by their primary care clinician.
3.11.2The contractor shall not chargea copayment or cost-share for BRCA1 or BRCA2 gene testing performed asa preventive service for women who meet the coverage guidelinesoutlined in Figure 18.2-1.
Note:For men, the contractor shallapply copayments or cost-shares to medically necessary and appropriate BRCA1or BRCA2 genetic counseling and testing.
3.12The demonstration expires onJuly 18, 2023. Requirements of this Chapter as related to this demonstrationcease at midnight on July 18, 2023. Only TRICARE beneficiaries withcurrent eligibility, as defined in paragraph 7.0, may participatein this demonstration project. The contractor shall not pay claimsfor individuals who are not eligible for TRICARE benefits. The contractorshall ensure all medical care, treatments, or testing, with theexception of the LDT which has approval during the demonstrationperiod only, are a TRICARE covered benefit provided to TRICARE eligiblebeneficiaries. This applies to all care rendered during or afterthe end date of this demonstration project.
3.13The contractor shall meet therecords management (RM) requirements described in Chapter9.
4.0APPLICABILITY
4.1This demonstrationapplies to all TRICARE-eligible beneficiaries. Additionally, forpurposes of Chapter 17, Section 3, LDTs are covered forService members as specified in the demonstration and the contractorshall not require a Supplemental Health Care Program (SHCP) waiver.
4.2The benefit for LDTs approvedunder this demonstration project differs from the TRICARE BasicProgram benefit. The contractor shall ensure coverage inquiriesare submitted to, and resolved by the appropriate contractor (referencingthe DHA Evaluation of Non-FDA Approved LDTs Demonstration Project).The contractor shall perform medical necessity reviews on a retrospectivebasis as necessary to act as a secondary payer for beneficiarieswith other insurance that provides primary coverage.
4.3The contractor shall not cost-sharenon-FDA approved medical devices such as LDTs, under the TRICARE BasicProgram. While the non-FDA approved LDTs may be covered under thedemonstration, appeal rights do not apply. Denials under the newdemonstration are not appealable. Further, the inclusion or exclusionof LDTs under the new demonstration is not appealable.
5.0GENERAL DESCRIPTION OF THEADMINISTRATIVE PROCESS
5.1With the exception of the CFcarrier screening test which shall be provided in accordance withthe most current ACOG guidelines, the contractor shall preauthorizeall other demonstration approved LDTs, to verify that the TRICAREauthorized provider has determined the eligible beneficiary’s medicalneed based on the beneficiary’s clinical diagnoses which supportthe medical need, and according to all indications detailed in Figure 18.2-1.The contractor shall document these facts according to and consistentwith Chapter 1, Section 4. Following the contractor’sidentification of an appropriate request for an approved LDT, asidentified within the terms of the demonstration, the contractorshall notify the TRICARE authorized provider requesting/orderingthe LDT that they are authorized to use the LDT for the beneficiary.The contractor shall issue the notification of decision to authorize useof the demonstration approved LDT in writing to both the applicantprovider and the beneficiary receiving the LDT. The contractor shallidentify each claim with the SPC L2.
5.2For LDTs which must be performedon an emergency basis, the contractor shall perform a retrospective authorizationreview and approval prior to payment (e.g., promyelocytic leukemia(PML)/Retinoic acid Receptor alpha (RaRalpha) testing performedin an emergency room or inpatient hospital setting for acute PMLpatients where results are urgently needed and will immediatelyimpact MM/treatment decisions).
6.0DHA RESPONSIBILITIES
6.1DHA will pay for the DHA Evaluationof Non-FDA Approved LDTs Demonstration Project with non-financiallyunderwritten transactions in accordance with each respective contractor’sagreement and will follow vouchering rules in Chapter3 or Section G of the contract.
6.2DHA willperform periodic reviews and evaluations of the demonstration claimsadjudication process.
7.0ADDITIONALCONTRACTOR RESPONSIBILITIES
The contractor shall:
•
•Verify the beneficiary’s eligibilityon the Defense Enrollment Eligibility Reporting System (DEERS).
•Correctly voucher the TRICAREEncounter Data (TED) records for payment.
•Issue an authorization or denialletter to the applicant provider and beneficiary once a determinationis made.
•Preauthorize the demonstrationapproved LDTs as required and verify medical necessity accordingto all indications detailed in Figure 18.2-1. The contractor shall consideronly the indications listed in the Coverage Guidelines for cost-sharing.The contractor shall issue the notification of decision to authorizeuse of the LDT in writing to both the applicant provider and thebeneficiary receiving the LDT.
•Manage and resolve all inquiriesrelated to the demonstration, including claims inquiries relatedto LDTs approved for cost-sharing during the LDT demonstration.
8.0CLAIMS PROCESSING REQUIREMENTS
8.1The contractor shall reimburseboth laboratory and professional charges based on existing TRICARE reimbursem*ntrules. In the absence of a CHAMPUS Maximum Allowable Charge (CMAC)for the specific test, the contractor shall develop a prevailingcharge following the procedures in the TRICARE Reimbursem*nt Manual (TRM), Chapter 5, Section 1.
8.2The contractor shall ensurelaboratories submit all charges on the basis of fully itemized bills.The contractor shall ensure the laboratories individually identifyand submit each service and supply item on the appropriate claimform. If a claim associated with the demonstration has missing information,the contractor shall follow Chapter 8, Section 6 guidelinesto either return or develop the claim.
8.3The contractorshall ensure all claims for the demonstration approved LDT meetthe requirements outlined in Figure 18.2-1. The contractor shall ensureall other covered care associated with treatment is provided in accordancewith the respective provisions of the TPM or TRM. The contractorshall ensure care associated with the LDT is medically necessaryand appropriate medical care and not otherwise excluded as a TRICAREbenefit.
8.4The contractor shall applycost-shares and deductibles applicable to TRICARE under the demonstration.
8.5The contractor shall applynormal double coverage provisions to LDTs approved under the demonstration.Acceptable evidence of processing by the double coverage plan isoutlined in Chapter 4.
8.6The contractor shall pay claimsfor this demonstration from the applicable non-underwritten bank account(see Chapter 3), andsubmit claims through normal TED processing as required in the TSMand in accordance with each respective contractor’s agreement ifclaims data is not submitted through the TED system.
8.7The contractor shall use SPC L2 toidentify all claims paid under the new demonstration. The intentof this policy is to process claims for the demonstration approvedLDTs with the SPC and the associated technical and professionalcomponents associated with the LDT-related CPTs. The contractorshall process medical care, treatments, and associated testing basedon medical necessity as a consequence of the demonstration approved LDT’sresults under the TRICARE Basic Program benefit.
8.8The contractor shall submitclaims for this demonstration either by Electronic Media Claim (EMC)or by paper claim using the dedicated demonstration mailing addressor using the appropriate regional claims processing address(es).
9.0EFFECTIVE DATES
9.1The effectivedate for coverage of LDTs approved under this demonstration projectis the later of:
9.1.1January 1, 2013; or
9.1.2The date on which there issufficient reliable evidence to determine that the non-FDA approvedLDT is proven safe and effective for TRICARE cost-sharing purposes.Effective dates of coverage for specific testing are included in Figure 18.2-1.
9.2Effective January 1, 2017,the contractor shall not apply a cost-share or copayment for geneticcounseling rendered by a TRICARE-authorized provider that precedesBRCA1 or BRCA2 gene testing for women who are identified as highrisk for breast cancer by their primary care clinician.
9.3Effective January 1, 2017,the contractor shall not apply a cost-share or copayment for BRCA1or BRCA2 gene testing for women who meet the coverage guidelinesoutlined in Figure 18.2-1.
9.4EffectiveJuly 19, 2020, the TOP contractor shall cover non-FDA approved LDTs,for qualified TOP beneficiaries, from either CLIA certified laboratoriesor laboratories that are assessed by the TOP contractor to be in accordancewith the host nation’s credentialing/accreditation standards whenthose standards for credentialing/accreditation are comparable toCLIA standards.
| TEST NAME: | Afirma Thyroid Fine-NeedleAspiration (FNA) Analysis | ||||
| Effective Date: | October 19, 2017 | ||||
| Coverage Guidelines: | The Afirma Thyroid FNA Analysisis covered for the following indication: •To aidin thyroid nodule diagnosis by reducing unnecessary surgeries inpatients with indeterminate thyroid nodules. | ||||
| GENE: | ALK | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | ALK gene testing is coveredfor the following indication: •To determineresponse to Tyrosine Kinase Inhibitor (TKI) therapy in patientswith adenocarcinoma of the lung or mixed lung cancer with adenocarcinomacomponent of the lung. | ||||
| GENE: | Adenomatous PolyposisColi (APC) | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | APC gene testing is coveredfor the following indications: •Testingfor APC variants in individuals with clinical symptoms consistentwith Familial Adenomatous Polyposis (FAP). •Testingfor APC variants in individuals with clinical symptoms consistentwith Attenuated Familial Adenomatous Polyposis (AFAP). •Testingfor APC variants in individuals with clinical symptoms consistentwith Turcot’s or Gardner’s syndromes. •Testingindividuals with an APC-associated polyposis syndrome for the purposeof identifying a variant that may be used to screen at-risk relatives. •For thepresymptomatic testing of at-risk relatives for a known familialvariant. | ||||
| GENE: | ATXN1 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | ATXN1 gene testing is coveredfor the following indications: •Diagnosisof Spinocerebellar Ataxia Type 1 (SCA1) in patients with cerebellarataxia of unknown etiology, along with extracerebellar symptomsassociated with SCA1 and/or a family history consistent with autosomaldominant inheritance. •Diagnosisof SCA1 in symptomatic family members of known SCA1 patients. | ||||
| GENE: | ATXN2 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | ATXN2 gene testing is coveredfor the following indications: •Diagnosisof Spinocerebellar Ataxia Type 2 (SCA2) in patients with cerebellarataxia of unknown etiology, along with extracerebellar symptomsassociated with SCA2 and/or a family history consistent with autosomaldominant inheritance. •Diagnosisof SCA2 in symptomatic family members of known SCA2 patients. | ||||
| GENE: | ATXN3 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | ATXN3 gene testing is coveredfor the following indications: •Diagnosisof Spinocerebellar Ataxia Type 3 (SCA3) in patients with cerebellarataxia of unknown etiology, along with extracerebellar symptomsassociated with SCA3 and/or a family history consistent with autosomaldominant inheritance. •Diagnosisof SCA3 in symptomatic family members of known SCA3 patients. | ||||
| GENE: | ATXN7 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | ATXN7 gene testing is coveredfor the following indications: •Diagnosisof Spinocerebellar Ataxia Type 7 (SCA7) in patients with cerebellarataxia and visual disturbance. •Diagnosisof SCA7 in symptomatic family members of known SCA7 patients. | ||||
| GENE: | ATXN10 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | ATXN10 gene testing is coveredfor the following indications: •Diagnosisof Spinocerebellar Ataxia Type 10 (SCA10) in ataxia patients whoseancestry is of American Indian origin, and whose family historyis consistent with autosomal dominant inheritance. •Diagnosisof SCA10 in symptomatic family members of known SCA10 patients. | ||||
| GENE: | BCR/ABL1 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | BCR/ABL1 gene testing is coveredfor the following indications: •Diagnosticassessment of individuals with suspected Chronic Myelogenous Leukemia(CML) by quantitative RT-PCR (RQ-PCR). •Diagnosticassessment of individuals with suspected CML by qualitative ReverseTranscriptase-Polymerase Chain Reaction (RT-PCR). •Monitoringresponse to TKI therapy, such as imatinib, in individuals with CMLby RQ-PCR. •Testing for the presence ofthe BCR/ABL1 p.Thr315Ile variant in CML patients to guide treatmentselection following resistance to first-line imatinib therapy. •Testingfor the presence of BCR/ABL1 variants other than p.Thr315Ile inCML patients to guide treatment selection following resistance tofirst-line imatinib therapy. | ||||
| GENE: | Bone Morphogenetic ProteinReceptor Type 1A (BMPR1A) | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | BMPR1A gene testing is coveredfor the following indications: •To clarifythe diagnosis of individuals with Juvenile Polyposis Syndrome (JPS). •If a knownSMAD4 mutation is in the family, genetic testing should be performedin the first six months of life due to hereditary hemorrhagic telangiectasiarisk. | ||||
| GENE: | BRAF | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | BRAF gene testing is coveredfor the following indications: •To predictresponse to vemurafenib therapy in patients with a positive cobas4800 BRAF mutation test result. •To predict response to trametinibmonotherapy in advanced melanoma patients with a positive BRAF p.Val600GLuand/or p.Val600Lys test result. •To predict response to dabrafenibmonotherapy in advanced melanoma patients with a positive BRAF p.Val600Glutest result. •To predictresponse to trametinib and dabrafenib combination therapy in advancedmelanoma patients with a positive BRAF p.Val600Glu and/or p.Val600Lystest result. •For individualswith indeterminate thyroid Fine-Needle Aspiration (FNA) biopsy cytologyfor diagnosis of papillary thyroid carcinoma. | ||||
| GENE: | BReast CAncer Gene 1(BRCA1)/BReast CAncer Gene 2 (BRCA2) | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | BRCA1/BRCA2 gene testing iscovered in accordance with the most current National ComprehensiveCare Network (NCCN) Guidelines for Breast Cancer. | ||||
| GENE: | Calcium Voltage-GatedChannel Subunit Alpha1 A (CACNA1A) | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | CACNA1A gene testing is coveredfor the following indications: •Diagnosisof Spinocerebellar Ataxia Type 6 (SCA6) in patients with cerebellarataxia with dysarthria and/or nystagmus. •Diagnosisof SCA6 in symptomatic family members of known SCA6 patients. | ||||
| GENE: | CALM1, CASQ2, RYR2, and/orTRDN | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | CALM1, CASQ2, RYR2, and/orTRDN gene testing is covered for the following indication: •To confirm a diagnosis of CatecholaminergicPolymorphic Ventricular Tachycardia (CPVT) in patients with clinicallydiagnosed or suspected CPVT. | ||||
| GENE: | CDH1 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | CDH1 gene testing is coveredfor the following indication: •For large rearrangements inthe CDH1 gene for the treatment of Hereditary Diffuse Gastric Cancer(HDGC). | ||||
| GENE: | CEBPA | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | CEBPA gene testing is coveredfor the following indication: •To guidethe treatment decisions for individuals with Acute Myeloid Leukemia(AML). | ||||
| GENE: | CFTR | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | CFTR gene testing is coveredfor the following indications: •Confirmationof diagnosis in individuals showing clinical symptoms of CF or havinga high sweat chloride level. •Identificationof newborns who are affected with CF. •Identificationof individuals with the p.Gly551Asp variant who will respond totreatment with ivacaftor. •Male infertilitytesting and treatment. •Preconceptionand prenatal carrier screening in accordance with the most currentACOG guidelines. | ||||
| GENE: | Chimerism Analysis | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | Chimerism analysis is coveredfor the following indication: •For the management and treatmentof stem cell transplant patients. | ||||
| GENE: | Chromosome 22q11.2 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | Chromosome 22q11.2 gene testingis covered for the following indication: •Confirmationof diagnosis in an individual suspected of chromosome 22q11.2 deletionsyndrome based on clinical findings. | ||||
| GENE: | COL1A1/COL1A2 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | COL1A1/COL1A2 gene testingis covered for the following indication: •For sequence variants in theCOL1A1/COL1A2 genes for the diagnosis of Osteogenesis Imperfecta(OI) when clinical and radiological examination and family historyprovide inadequate information for diagnosis of OI. | ||||
| GENE: | COL3A1 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | COL3A1 gene testing is coveredfor the following indication: •To confirmor establish a diagnosis of Ehlers-Danlos Syndrome Type 4 (EDS IV),also known as vascular EDS, in patients with clinical symptoms orfeatures of EDS IV. | ||||
| GENE: | CYP2C9 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | CYP2C9 gene testing is coveredfor the following indication: •For the initiation and managementof warfarin treatment. | ||||
| GENE: | CYP2C19 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | CYP2C19 gene testing is coveredfor the following indication: •To managedosing of clopidogrel. | ||||
| GENE: | Cytogenomic ConstitutionalMicroarray Analysis | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | Cytogenomic ConstitutionalMicroarray Analysis gene testing is covered for the following indications: •Diagnosticevaluation of patients suspected of having a genetic syndrome (i.e.,have congenital anomalies, dysmorphic features, Developmental Delay(DD), and/or intellectual disability). •Diagnosticevaluation of individuals with Autism Spectrum Disorder (ASD), includingautism, Asperger syndrome, and pervasive developmental disorder. | ||||
| GENE: | DAZ/SRY | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | DAZ/SRY gene testing is coveredfor the following indication: •To detectsubmicroscopic deletions involving the Y chromosome in the evaluationof men with infertility secondary to azoospermia, oligozoospermia,or teratozoospermia. | ||||
| GENE: | duch*enne Muscular Dystrophy(DMD) | ||||
| Effective Date: | November 20, 2014 | ||||
| Coverage Guidelines: | DMD gene testing is coveredfor the following indication: •For diagnosticDMD testing (deletion and duplication analysis with reflex to completegene sequencing) in males or females exhibiting symptoms of DMDor Becker Muscular Dystrophy (BMD). | ||||
| GENE: | DMPK | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | DMPK gene testing is coveredfor the following indications: •Confirmationof a diagnosis of Myotonic Dystrophy Type 1 (DM1) or Type 2 (DM2)in symptomatic patients. •Diagnosisof DM1 or DM2 in asymptomatic adults who are at an increased riskof DM1 or DM2 through a positive family history. | ||||
| GENE: | DSC2, DSG2, DSP, JUP,PKP2, RYR2, TGFB3, and/or TMEM43 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | DSC2, DSG2, DSP, JUP, PKP2,RYR2, TGFB3, and/or TMEM43 gene testing is covered for the following indications: •For sequence variants in theDSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3, and TMEM43 genes to confirma diagnosis of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy(ARVD/C) in probands. •For a known familial sequencevariant in the DSC2, DSG2, DSP, PKP2, or TMEM43 gene for at-riskrelatives of probands with International Task Force (ITF)-confirmedARVD/C to confirm a diagnosis of ARVD/C in those whose symptomsmeet the ITF-diagnostic criteria. | ||||
| GENE: | DYT1/TOR1A | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | DYT1/TOR1A gene testing iscovered for the following indications: •For genetic testing for sequencevariants of DYT1 for patients with primary dystonia with onset <30 years of age. •For genetic testing for sequencevariants of DYT1 for patients with primary dystonia with onset ≥30 years of age who have a relative who developed dystonia aged< 30 years. | ||||
| GENE: | EGFR | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | EGFR gene testing is coveredfor the following indication: •To helpguide administration of Epidermal Growth Factor Receptor (EGFR)TKIs in the first-line treatment of non-small cell lung cancer. | ||||
| GENE: | F2 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | Prothrombin (Factor II) relatedthrombophilia gene testing is covered for the following indications: •Diagnosticevaluation of individuals with a prior Venous Thromboembolism (VTE)during pregnancy or puerperium. •For patientswith VTE with a personal or family history of recurrent VTE (morethan two in the same person). •For patientswith their first VTE before age 50 with no precipitating factors. •For venousthrombosis at unusual sites such as the cerebral, mesenteric, portal,or hepatic veins. •For VTEassociated with the use of estrogen-containing oral contraceptives,Selective Estrogen Receptor Modulators (SERMs), or Hormone ReplacementTherapy (HRT). •To diagnosean inherited thrombophilia in female family members of individualswith an inherited thrombophilia if the female family member is pregnantor considering pregnancy or oral contraceptive use. | ||||
| GENE: | F5 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | Factor V Leiden thrombophiliagene testing is covered for the following indications: •Diagnosticevaluation of individuals with a prior VTE during pregnancy or puerperium. •For patientswith VTE with a personal or family history of recurrent VTE (morethan two in the same person). •For patientswith their first VTE before age 50 with no precipitating factors. •For venousthrombosis at unusual sites such as the cerebral, mesenteric, portal,or hepatic veins. •For VTEassociated with the use of estrogen-containing oral contraceptives,Selective Estrogen Receptor Modulators (SERMs), or Hormone ReplacementTherapy (HRT). •To diagnosean inherited thrombophilia in female family members of individualswith an inherited thrombophilia if the female family member is pregnantor considering pregnancy or oral contraceptive use. | ||||
| GENE: | FBN1 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | FBN1 gene testing is coveredfor the following indications: •To facilitatethe diagnosis of Marfan syndrome in patients who do not fulfillthe Ghent diagnostic criteria, but have at least one major featureof the condition. •To facilitatethe diagnosis of Marfan syndrome in the at-risk relatives of patientscarrying known disease-causing variants. | ||||
| GENE: | FLCN | ||||
| Effective Date: | July 31, 2014 | ||||
| Coverage Guidelines: | FLCN gene testing is coveredfor the following indication: •To confirm a diagnosis of Birt-Hogg-DubéSyndrome (BHD) in patients with suspected BHD. | ||||
| GENE: | FLT3 | ||||
| Effective Date: | October 7, 2013 | ||||
| Coverage Guidelines: | FLT3 gene testing is coveredfor the following indication: •For diagnosis and prognosisin AML. | ||||
| GENE: | FMR1 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | FMR1 gene testing is coveredfor the following indication: •Testingfor CGG repeat length for diagnosis of patients of either sex withmental retardation, intellectual disability, developmental delay,or autism. FMR1 gene testing for FragileX-Associated Tremor/Ataxia Syndrome is covered for the followingindividuals: •Males and females older thanage 50 years who have progressive cerebellar ataxia and intentiontremor with or without a positive family history of FMR1-relateddisorders in whom other common causes of ataxia have been excluded. •Womenwith unexplained Premature Ovarian Insufficiency (POI). | ||||
| GENE: | GCK | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | GCK gene testing is coveredfor the following indication: •Diagnosisof Maturity-Onset Diabetes of the Young Type 2 (MODY2) in patientswith hyperglycemia or non-insulin-dependent diabetes who have afamily history of abnormal glucose metabolism in at least two consecutivegenerations, with the patient or ≥ 1 family member(s) diagnosedbefore age 25. | ||||
| GENE: | GJB2 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | GJB2 gene testing is coveredfor the following indication: •Diagnosisof DFNB1 or DFNA3 in individuals with nonsyndromic hearing lossto aid in treatment. | ||||
| GENE: | GJB6 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | GJB6 gene testing is coveredfor the following indication: •Diagnosisof DFNB1 or DFNA3 in individuals with nonsyndromic hearing lossto aid in treatment. | ||||
| GENE: | HBA1/HBA2 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | HBA1/HBA2 gene testing is coveredfor the following indications: •To confirmthe diagnosis of alpha-thalassemia in a symptomatic individual. •To confirmthe diagnosis in a pregnant woman with low hemoglobin when alpha-thalassemiais suspected. | ||||
| GENE: | HEXA | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | HEXA gene testing is coveredfor the following indication: •As anadjunct to biochemical testing in patients with low hexosaminidaseA levels in blood. When individuals are identified with apparentdeficiency of hexosaminidase A enzymatic activity, targeted mutationanalysis can then be used to distinguish pseudodeficiency allelesfrom disease-causing alleles. | ||||
| GENE: | HFE | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | HFE-associated hereditary hemochromatosisgene testing is covered for the following indication: •Diagnosisof patients with or without symptoms of iron overload with a serumtransferrin saturation >45% and/or elevated serum ferritin. | ||||
| GENE: | HLA | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | HLA gene testing is coveredfor the following indications: •To determinehistocompatibility of tissue between organ and bone marrow donorsand recipients prior to transplant. •For platelettransfusion for patients refractory to treatment due to alloimmunization. •Diagnosisof celiac disease in symptomatic patients with equivocal resultson small bowel biopsy and serology, or in previously symptomaticpatients who are asymptomatic while on a gluten-free diet. •Testingfor the HLA-B*1502 allele prior to initiating treatment with carbamazepinein patients from high-risk ethnic groups. •Testingfor the HLA-B*5701 allele for hypersensitivity reactions in patientsprior to initiation or reinitiation with treatments containing abacavir. •Testingfor the HLA-B*58:01 allele in patients prior to initiating treatmentwith allopurinol. | ||||
| GENE: | HNF1A | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | HNF1A gene testing is coveredfor the following indication: •Diagnosisof Maturity-Onset Diabetes of the Young Type 3 (MODY3) in patientswith hyperglycemia or non-insulin-dependent diabetes who have afamily history of abnormal glucose metabolism in at least two consecutivegenerations, with the patient or ≥ 1 family member(s) diagnosedbefore age 25. | ||||
| GENE: | HNF1B | ||||
| Effective Date: | May 1, 2016 | ||||
| Coverage Guidelines: | HNF1B gene testing is coveredfor the following indication: •Diagnosisof Maturity-Onset Diabetes of the Young Type 5 (MODY5) in patientswith hyperglycemia or non-insulin-dependent diabetes who have afamily history of abnormal glucose metabolism in at least two consecutivegenerations, with the patient or ≥ 1 family member(s) diagnosedbefore age 25, and who have structural or functional abnormalitiesof the kidneys. | ||||
| GENE: | HNF4A | ||||
| Effective Date: | May 1, 2016 | ||||
| Coverage Guidelines: | HNF4A gene testing is coveredfor the following indication: •Diagnosis of Maturity-OnsetDiabetes of the Young Type 1 (MODY1) in patients with hyperglycemiaor non-insulin-dependent diabetes who have a family history of abnormalglucose metabolism in at least two consecutive generations, withthe patient or ≥ 1 family member(s) diagnosed before age 25. | ||||
| GENE: | HTT | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | HTT gene testing is coveredfor the following indication: •To testfor CAG repeat length for diagnosis of Huntington Chorea/Disease(HD) in patients suspected of having HD in the absence of a familyhistory of HD. | ||||
| GENE: | IGH | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | IGH gene testing is coveredfor the following indications: •For medical management of patientswith Acute Lymphoblastic Leukemia (ALL) through analysis of rearrangementsin the IGH gene to estimate Minimal Residual Disease (MRD) levels. •For diagnostic evaluation ofrearrangements in the IGH gene in patients with suspected B-cellNon-Hodgkin’s Lymphoma (NHL), but in whom clinical, immunophenotypic,and histologic evaluation have provided inconclusive results. | ||||
| GENE: | IGK | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | IGK gene testing is coveredfor the following indications: •For medical management of patientswith ALL through analysis of rearrangements in the IGK gene to estimateMRD levels. •For diagnosticevaluation of rearrangements in the IGK gene in patients with suspectedB-cell NHL, but in whom clinical, immunophenotypic, and histologicevaluations have provided inconclusive results. | ||||
| GENE: | IL28B | ||||
| Effective Date: | February 28, 2013 | ||||
| Coverage Guidelines: | IL28B gene testing is coveredfor the following indication: •For IL28B single nucleotidepolymorphism (SNP) testing in patients with chronic Hepatitis CVirus (HCV) genotype 1 being considered for treatment with PegIFN/RBVdual therapy. | ||||
| GENE: | JAK2 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | JAK2 gene testing is coveredfor the following indications: •Diagnosticevaluation of individuals presenting with clinical, laboratory,or pathological findings suggesting classic forms of myeloproliferativeneoplasms (MPN), that is, Polycythemia Vera (PV), Essential Thrombocythemia(ET), or Primary Myelofibrosis (PMF). •Diagnosticevaluation of PV through JAK2 Exon 12 variant detection in JAK2p.Val617Phe negative individuals. | ||||
| GENE: | KCNQ1, KCNH2, SCN5A,KCNE1, and/or KCNE2 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | KCNQ1, KCNH2, SCN5A, KCNE1,and/or KCNE2 gene testing is covered for the following indication: •For patientswith suspected familial Long QT Syndrome for confirmation of diagnosisand treatment. | ||||
| GENE: | KIT | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | KIT gene testing is coveredfor the following indications: •To confirma diagnosis of a gastrointestinal stromal tumor (GIST) in patientswho are negative by immunostaining. •To determineprimary resistance to treatment with TKIs in patients with an advancedmetastatic or unresectable GIST. •To determineprimary resistance to preoperative or postoperative treatment ofa GIST with TKIs. | ||||
| GENE: | KMT2D and/or KDM6A | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | KMT2D and/or KDM6A gene testingis covered for the following indication: •To confirm a diagnosis of KabukiSyndrome (KS) in patients with symptoms compatible with KS. | ||||
| GENE: | KRAS | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | KRAS gene testing is coveredfor the following indication: •To helpguide administration of anti-EGFR monoclonal antibodies. | ||||
| GENE: | MECP2 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | MECP2 gene testing is coveredfor the following indications: •Testingfor MECP2 sequence variants in patients who meet established clinicaldiagnostic criteria for classic or variant Rett Syndrome (RS). •Testingfor MECP2 sequence variants in patients who have symptoms of RS,but do not meet established clinical diagnostic criteria. | ||||
| GENE: | MEFV | ||||
| Effective Date: | June 16, 2014 | ||||
| Coverage Guidelines: | MEFV gene testing is coveredfor the following indications: •In patients exhibiting symptomsof Familial Mediterranean Fever (FMF), including periodic episodesof fever in combination with peritonitis, pleuritic, arthritis,and erysipelas-like erythema. •In patients from ethnic groupsconsidered at high risk for FMF who present with nephrotic syndromeor amyloidosis, but do not meet the diagnostic criteria for FMF. | ||||
| GENE: | MLH1, MSH2, MSH6, MSI,PMS2, and/or EPCAM | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | Genetic testing for Lynch Syndrome(LS) is covered in accordance with the most current NCCN Guidelinesfor Colon Cancer. | ||||
| GENE: | MPL | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | MPL gene testing is coveredfor the following indication: •Diagnosticevaluation of Myeloproliferative Leukemia (MPL) variants to includeTrp515Leu and Trp515Lys in JAK2 p.Val617Phe-negative individualsshowing symptoms. | ||||
| GENE: | MUTYH | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | MUTYH or MYH gene testing iscovered for the following indications: •Diagnosisof MYH-Associated Polyposis (MAP) in APC-negative colorectal polyposispatients, or in polyposis patients who have a family history consistentwith autosomal recessive inheritance. •Diagnosisof MAP in asymptomatic siblings of patients with known MYH variants. | ||||
| GENE: | Noninvasive PrenatalScreening for Trisomies 13, 18, 21, X & Y | ||||
| Effective Date: | March 5, 2015 | ||||
| Coverage Guidelines: | Nonivasive Prenatal Screeningfor Trisomies 13, 18, 21, X & Y is covered for the followingindication: •In singletonpregnancies with a high risk of fetal aneuploidy. | ||||
| GENE: | NPM1 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | NPM1 gene testing is coveredfor the following indication: •To guidetreatment decisions for individuals with AML. | ||||
| GENE: | NRAS | ||||
| Effective Date: | October 3, 2014 | ||||
| Coverage Guidelines: | NRAS gene testing is coveredfor the following indication: •For patientswith metastatic colorectal cancer who are being considered for treatmentwith anti-EGFR monoclonal antibodies, and who have had negativeKRAS gene testing. | ||||
| TEST NAME: | Oncotype DX® Breast CancerAssay (Oncotype DX®) | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | Oncotype DX® gene testing iscovered for the following indications: •EstrogenReceptor (ER) positive (+), lymph node (LN) negative (-), humanEGFR 2 negative (HER2-) breast cancer patients who are consideringwhether to use adjuvant chemotherapy in addition to standard hormonetherapy. •ER+, HER2- breast cancer patientswith 1-3 involved ipsilateral axillary lymph nodes who are considering whetherto use adjuvant chemotherapy in addition to hormonal therapy. | ||||
| GENE: | PAX8 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | PAX8 gene testing is coveredfor the following indication: •For individualswith indeterminate thyroid FNA biopsy cytology for diagnosis ofpapillary thyroid carcinoma. | ||||
| GENE: | PDGFRA | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | PDGFRA gene testing is coveredfor the following indications: •To confirma diagnosis of a GIST in patients who are negative by immunostaining. •To determineprimary resistance to treatment with TKIs in patients with an advancedmetastatic or unresectable GIST. •To determineprimary resistance to preoperative or postoperative treatment ofa GIST with TKIs. | ||||
| GENE: | PML/RARalpha | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | PML/RARalpha gene testing iscovered for the following indications: •Diagnosticassessment of individuals with suspected acute promyelocytic leukemia(APL) by quantitative RT-PCR (RQ-PCR). •Diagnosticassessment of individuals with suspected APL by qualitative RT-PCR. •Monitoringresponse to treatment and disease progression in individuals withAPL by RQ-PCR. | ||||
| GENE: | PMP22 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | PMP22 gene testing is coveredfor the following indication: •For theaccurate diagnosis and classification of hereditary polyneuropathies. | ||||
| GENE: | PPP2R2B | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | PPP2R2B gene testing is coveredfor the following indications: •Diagnosisof Spinocerebellar Ataxia Type 12 (SCA12) in patients with actiontremor of the upper extremities and signs of cerebellar and corticaldysfunction, in addition to Indian ancestry and a family history consistentwith autosomal dominant inheritance. •Diagnosisof SCA12 in symptomatic family members of known SCA12 patients. | ||||
| GENE: | PRSS1 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | PRSS1 gene testing is coveredfor the following indications: •To confirma diagnosis of hereditary pancreatitis in symptomatic patients withany of the following: | ||||
| •A familyhistory of pancreatitis in a first-degree (parent, sibling, child)or second-degree (aunt, uncle, grandparent) relative; •An unexplainedepisode of documented pancreatitis occurring in a child that hasrequired hospitalization, and where there is significant concernthat hereditary pancreatitis should be excluded; •Recurrent(two or more separate, documented episodes with hyper-amylasemia)attacks of acute pancreatitis for which there is no explanation(anatomical anomalies, ampullary or main pancreatic strictures,trauma, viral infection, gallstones, alcohol, drugs, hyperlipidemia,etc.); or •Unexplained (idiopathic) chronicpancreatitis. | |||||
| GENE: | PTEN | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | PTEN gene testing is coveredfor the following indications: •For patientswith ASDs and macrocephaly (Head circumference greater than 2 standardabove the mean for age). •PTEN varianttesting in individuals suspected of being affected with Cowden Syndrome(CS) or Bannayan-Riley-Ruvalcaba Syndrome (BRRS). | ||||
| GENE: | RET | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | RET gene testing is coveredfor the following indications: •Multipleendocrine neoplasia type 2 (MEN2) gene testing in patients withthe clinical manifestations of MEN2A, MEN2B, or familial medullarythyroid carcinoma (FMTC), including those with apparently sporadic MedullaryThyroid Carcinoma (MTC) or pheochromocytoma. •MEN2 genetesting to confirm a diagnosis in the at-risk relatives of geneticallyconfirmed MEN2 patients. | ||||
| GENE: | ROS1 | ||||
| Effective Date: | January 12, 2016 | ||||
| Coverage Guidelines: | ROS1 gene testing is coveredfor the following indication:. •For patients who have wildtype (negative) EGFR or ALK gene testing, reflex testing to ROS1should be ordered for the treatment of non-small cell lung carcinoma. | ||||
| GENE: | RYR1 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | RYR1 gene testing is coveredfor the following indications: •To testclinically confirmed Malignant Hyperthermia Susceptibility (MHS)patients for variants in the RYR1 gene to facilitate diagnostictesting in at-risk relatives. •To diagnoseMHS in at-risk relatives of patients with clinically confirmed MHS. | ||||
| GENE: | SDHA, SDHB, SDHC, SDHD,SDHAF2, MAX, and/or TMEM127 | ||||
| Effective Date: | June 16, 2014 | ||||
| Coverage Guidelines: | SDHA, SDHB, SDHC, SDHD, SDHAF2,MAX, and/or TMEM127 gene testing is covered for the following indication: •To diagnosea hereditary paraganglioma (PGL) or pheochromocytoma (PCC) syndromein patients with PGLs and/or PCCs. | ||||
| GENE: | SERPINA1 | ||||
| Effective Date: | May 27, 2014 | ||||
| Coverage Guidelines: | SERPINA1 gene testing is coveredfor the following indication: •For guidance in diagnosis ofinconclusive cases of Alpha-1 Antitrypsin Deficiency (AATD) in individualswith Chronic Obstructive Pulmonary Disease (COPD), unexplained liverdisease, family history of AATD, or environmental exposures leadingto airflow obstruction after serum Alpha-1 Antitrypsin (AAT) protein levelsand protein phenotyping has been completed. | ||||
| GENE: | SMAD4 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | SMAD4 gene testing is coveredfor the following indications: •To clarifythe diagnosis of individuals with JPS. •If a knownSMAD4 mutation is in the family, genetic testing should be performedin the first six months of life due to hereditary hemorrhagic telangiectasiarisk. | ||||
| GENE: | SMN1/SMN2 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | SMN1/SMN2 gene testing is coveredfor the following indication: •Diagnosisof patients with hypotonia and muscle weakness who are suspectedof having Spinal Muscular Atrophy (SMA). | ||||
| GENE: | SNRPN/UBE3A | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | SNRPN/UBE3A gene testing iscovered for the following indications: •When aclinical diagnosis of Prader-Willi Syndrome (PWS) is suspected,the following findings justify genetic testing: | ||||
| •From birthto age two: Hypotonia with poor suck (neonatal period). •From agetwo to age six: Hypotonia with history of poor suck, global developmentaldelay. •From age six to age 12: Hypotoniawith history of poor suck, global developmental delay, excessive eatingwith central obesity if uncontrolled. •From age13 years to adulthood: Cognitive impairment, usually mild intellectualdisability; excessive eating with central obesity if uncontrolled,hypothalamic hypogonadism and/or typical behavior problems. | |||||
| •When aclinical diagnosis of Angelman Syndrome is suspected, the followingfindings justify genetic testing: | |||||
| •As partof the evaluation of patients with developmental delay, regardlessof age. •As part of the evaluation ofpatients with a balance or movement disorder such as ataxia of gait.May not appear as frank ataxia but can be forward lurching, unsteadiness,clumsiness, or quick, jerky motions. •As partof the evaluation of patients with uniqueness of behavior: any combinationof frequent laughter/smiling; apparent happy demeanor; easily excitablepersonality, often with uplifted hand-flapping or waving movements;hypermotoric behavior. •Speechimpairment, none or minimal use of words; receptive and non-verbalcommunication skills higher than verbal ones. | |||||
| GENE: | STK11 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | STK11 gene testing is coveredfor the following indication: •To confirma diagnosis of Peutz-Jeghers Syndrome (PJS) in proband patientswith a presumptive or probable diagnosis of PJS. | ||||
| GENE: | TBP | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | TBP gene testing is coveredfor the following indications: •Diagnosisof Spinocerebellar Ataxia Type 17 (SCA17) in ataxia patients exhibitingvariable combinations of cognitive decline, psychiatric disturbance,and movement disorders. •Diagnosisof SCA17 in symptomatic family members of known SCA17 patients. •Diagnosisof SCA17 in patients suspected of having Huntington Disease (HD)who have tested negative for a pathogenic variant in the HD gene. | ||||
| GENE: | TGFBR2 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | TGFBR2 gene testing is coveredfor the following indication: •To facilitate the diagnosisof Marfan syndrome in patients testing negative for FBN1 gene variants. | ||||
| GENE: | TP53 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | TP53 gene testing is coveredfor the following indication: •Diagnosisof patients satisfying the criteria for classic Li-Fraumeni Syndrome(LFS) or Li-Fraumeni-Like Syndrome (LFLS), or the Chompret criteriafor TP53 gene testing. | ||||
| GENE: | TPMT | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | TPMT gene testing is coveredfor the following indication: •TPMT genotyping or phenotypingin patients with Inflammatory Bowel Disease (IBD) prior to administrationof thiopurines (azathioprine, 6-MP, and 6-TG). | ||||
| GENE: | TRG | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | TRG gene testing is coveredfor the following indication: •Diagnosisand treatment of T-cell neoplasms. | ||||
| GENE: | UGT1A1 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | UGT1A1 gene testing is coveredfor the following indications: •Priorto irinotecan administration in patients with CRC to lower the startingdose of irinotecan in patients with the UGT1A1*28/UGT1A1*28 genotype. •Priorto irinotecan administration in patients with CRC to increase thestarting dose of irinotecan in patients with the UGT1A1*1/UGT1A1*1or UGT1A1*1/UGT1A1*28 genotypes. | ||||
| GENE: | UPD | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | UPD gene testing is coveredfor the following indication: •For neonates, infants, childrenor adults symptomatic for Beckwith-Wiedermann Syndrome (BWS) to diagnoseUniparental Disomy (UPD) for chromosome 11. | ||||
| GENE: | VHL | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | VHL gene testing is coveredfor the following indications: •Diagnosisof Von Hippel-Lindau (VHL) syndrome in patients presenting withpheochromocytoma, paraganglioma, or central nervous system hemangioblastoma. •Confirmationof diagnosis in individuals with symptoms consistent with VHL syndrome. | ||||
| GENE: | VKORC1 | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | VKORC1 gene testing is coveredfor the following indication: •For the initiation and managementof warfarin treatment. | ||||
| TEST NAME: | Y Chromosome MicrodeletionAnalysis | ||||
| Effective Date: | January 1, 2013 | ||||
| Coverage Guidelines: | Y Chromosome MicrodeletionAnalysis is covered for the following indication: •For detecting submicroscopicdeletions involving the Y chromosome in men with azoospermia, oligozoospermia,or teratozoospermia. | ||||
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