MOLECULAR PATHOLOGY/MOLECULAR DIAGNOSTICS/ GENETIC TESTING
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UnitedHealthcare® Medicare Advantage
Policy Guideline
MOLECULAR PATHOLOGY/MOLECULAR DIAGNOSTICS/
GENETIC TESTING
Guideline Number: MPG210.11 Approval Date: March 13, 2019
Terms and C onditions
Table of Contents Page Related Medicare Advantage Policy Guidelines
POLIC Y SUMMARY......................................................1 • C linical Diagnostic Laboratory Services
APPLIC ABLE C ODES ...................................................5 • C orus® C AD (C oronary Artery Disease)
PURPOSE ................................................................ 22
REFERENC ES........................................................... 22 Related Medicare Advantage C overage Summaries
GUIDELINE HISTORY/REVISION INFORMATION .......... 23 • Genetic Testing
TERMS AND CONDITIONS......................................... 23 • Laboratory Tests and Services
POLIC Y SUMMARY
See Purpose
Overview
This policy overview addresses molecular and genetic tests that have proven efficacy according to C MS, in the
diagnosis or treatment of medical conditions, including but not limited to the following:
Hereditary Breast and Ovarian Cancer
Anomalies in two genes, BRC A1 and BRC A2, are associated with an increased risk of breast and ovarian cancer.
Alterations in BRC A1 and BRC A2 explain many, but not all, of inherited forms of breast and ovarian cancer. With the
identification of BRC A1 and BRC A2, it is now possible to test for abnormalities in the genes to provide information on
the future risk of cancer and to make important treatment decisions in affected individuals. Approximately five- to
ten-percent of all breast cancers, and a similarly small percentage of ovarian cancers, are attributed to dominantly
inherited susceptibility. (See LC Ds for C ancer section for specific coverage guidelines.)
Gene expression assays for breast cancer treatment, including but not limited to:
Breast C ancer Index (BC I)® Genetic Assay
EndoPredict®
MammaPrint®
Oncotype DX TM
Oncotype DX DC IS
Prosigna™ Breast C ancer Prognostic Gene Signature Assay
(See LC Ds for C ancer section for specific coverage guidelines.)
Hereditary Colorectal and Endometrial Cancer Syndromes
Lynch Syndrome (previously denoted as Hereditary Non-Polyposis C olorectal C ancer (HNPC C) syndrome), is an
autosomal dominant syndrome that accounts for about 3-5% of colorectal cancer cases. HNPC C syndrome mutations
occur in the following genes: hMLH1, hMSH2, hMSH6, PMS2 and EPC AM. C olorectal cancers associated with Lynch
syndrome occur at a younger age (average age of onset between 44-61 years of age) compared with the more
common colorectal cancers typically found during the seventh decade of life. Gynecologic cancers may precede
colorectal cancer in as many as 50% of female HNPC C gene mutation carriers. (See LC Ds for C ancer section for
specific coverage guidelines.)
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APC
BC R/ABL1
BRAF
C YP2C 19
C YP2D6
EGFR
JAK2
KRAS
MGMT
MUTYH
NRAS
(See LC Ds and Articles section for specific coverage guidelines.)
Multiple Myeloma Gene Expression Profile
MyPRS™ is a test for Multiple Myeloma Gene Expression Profile. Multiple myeloma is an incurable malignancy of
terminally differentiated antibody secreting plasma cells. The median overall survival is reported at 3-4 years. Disease
sequelae associated with this malignancy includes anemia, immunodeficiency, renal insufficiency/failure, lytic bone
lesions and hypercalcemia.
This test is used only after an initial diagnosis of multiple myeloma has been made and will be available to be used in
stratification of therapeutic interventions. The coverage is set to include only two clinical settings:
• Once after initial diagnosis is made, or
• If relapse has occurred and a change in the therapeutic modalities is contemplated
(See LC Ds in C ancer section for coverage guidelines.)
Acute lymphoblastic leukemia (ALL) or multiple myeloma (MM) Sequencing
Minimal Residual Disease (MRD) refers to a measure of cancer cells that remain in a person during and following
treatment. Testing for MRD using the clonoSEQ® assay is reasonable and necessary when performed on bone marrow
specimens in patients with B-C ell acute lymphoblastic leukemia (ALL) or multiple myeloma. (See LC Ds in C ancer
section for coverage guidelines.)
Loss-of-Heterozygosity Based Topographic Genotyping with PathfinderTG ® /PancraGENTM Test for
Pancreatic Cyst/Mass
C ombining pathologic study with molecular analyses of microdissected tissue, is claimed to enhance the ability to
provide more specific diagnostic information, to help guide treatment decisions. These testing combinations are
generally known as topographic genotyping. (See LC D Miscellaneous section for coverage guidelines.)
Circulating Tumor Cell (CTC) Assay
C TC s represent the point in the metastatic process of solid tumors when cells from a primary tumor invade, detach,
disseminate, colonize and proliferate in a distant site. Detection of elevated C TC s during therapy may be an accurate
indication of subsequent rapid disease progression and mortality in breast, colorectal and prostate cancer, noting that
FDA labeling includes each of these neoplasms. As a result of limited acceptable study data, C TC s are considered not
medically necessary, for all indications. (See LC Ds for C TC s for specific coverage guidelines.)
Bladder Tumor Markers, including but not limited to:
Bladder Tumor Marker tests include: BTA TRAK ®, Nuclear matrix protein 22 (NMP-22), NMP-22 BladderC hek ®, The
UroVysion®, BTA (bladder tumor antigen) stat®, and The ImmunoC yt™. (See LC Ds for C ancer section for coverage
guidelines.)
NSCLC (non-small cell lung cancer) Testing
Guardant360® (Guardant Health, Redwood C ity, C A), is a plasma-based comprehensive somatic genomic profiling
test (hereafter called C GP) for patients with Stage IIIB/IV non-small cell lung cancer (NSC LC ).
Plasma-based C GP can help patients avoid an invasive biopsy to obtain tissue for tumor genotyping. (See LC Ds for
C ancer for coverage guidelines.)
Molecular Assays for Prostate Cancer, including but not limited to:
C onfirmMDx
Decipher ®
Oncotype DX™ Prostate C ancer
PROGENSA ® PC A3 Assay
Prolaris™
ProMark ® Risk Score
(See LC Ds for C ancer for coverage guidelines.)
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AlloMap® Molecular Expression Testing is a non-invasive gene expression test used to aid in the identification of heart
transplant recipients.
AlloSure ® donor-derviced cell-free DNA is used to assess the probability of allograft rejection in kidney transplant
recipients with clinical suspicion of rejection.
(See LC Ds for Molecular Pathology section for coverage guidelines.)
Molecular Pathology Procedures for Human Leukocyte Antigen (HLA) Typing
Human Leukocyte Antigen (HLA) typing is performed to assess compatibility of recipients and potential donors as a
part of solid organ and hematopoietic stem cell/ bone marrow pretransplant testing. HLA testing is also performed to
identify HLA alleles and allele groups (antigen equivalents) associated with specific diseases and individualized
responses to drug therapy (e.g., HLA-B*27 and ankylosing spondylitis; HLA-B57:01 and abacavir hypersensitivity;
HLA-B*15:02 and carbamazepine, phenytoin or fosphenytoin hypersensitivity), as well as other clinical uses. One or
more HLA genes may be tested in specific clinical situations (e.g., HLA A, B, C ,-DRB1, and DQB1 for kidney
transplantation). Each HLA gene typically has multiple variant alleles or allele groups that can be identified by typing.
(See LC Ds for Molecular Pathology for coverage guidelines.)
GeneSight® Assay for Refractory Depression
GeneSight Psychotropic is a multiplex pharmacogenomic test involving the analysis of fifty alleles (SNPs) from six
different genes. The test results in the differentiation of psychoactive drugs that are likely to be effective and well-
tolerated by a particular patient versus those that are not. GeneSight testing may only be ordered by licensed
psychiatrists contemplating an alteration in neuropsychiatric medication for patients diagnosed with major depressive
disorder (MDD) after at least one prior neuropsychiatric medication failure. (See LC D for GeneSight in Miscellaneous
section for coverage guidelines.)
Assays for Rheumatoid Arthritis, including but not limited to:
The Avise ® PG Assay
Vectra ® DA
(See Article section for coverage guidelines.)
Genetic Testing for Myeloproliferative Disease
Myeloproliferative disorders are a group of conditions that cause abnormal growth of blood cells in the bone marrow.
They include polycythemia vera (PV), essential thrombocytosis (ET), primary myelofibrosis (PMF), and chronic
myelogenous leukemia (C ML). The World Health Organization (WHO) further classifies PV, ET, and PMF as Philadelphia
chromosome negative myeloproliferative neoplasms (MPNs). MPNs are characterized by an increase in the number of
blood cells. (See LC Ds for Molecular Pathology for coverage guidelines.)
Molecular RBC (red blood cell) Phenotyping
Molecular RBC Phenotyping is pretransfusion molecular testing using the HEA BeadC hip™ assay for the following
categories of patients:
• Long term, frequent transfusions anticipated to prevent the development of alloantibodies (e.g. sickle cell anemia,
thalassemia or other reason);
• Autoantibodies or other serologic reactivity that impedes the exclusion of clinically significant alloantibodies (e.g.
autoimmune hemolytic anemia, warm autoantibodies, patient recently transfused with a positive DAT, high-titer
low avidity antibodies, patients about to receive or on daratumumab therapy, other reactivity of no apparent
cause);
• Suspected antibody against an antigen for which typing sera is not available; and
• Laboratory discrepancies on serologic typing (e.g. rare Rh D antigen variants) (See LC Ds for Molecular Pathology
for coverage guidelines.)
Guidelines
Based on the C enters for Medicare & Medicaid Services (C MS) Program Integrity Manual (100-08), this policy
addresses the circumstances under which the item or service is reasonable and necessary under the Social Security
Act, §1862(a)(1)(A). For laboratory services, a service can be reasonable and necessary if the service is safe and
effective; and appropriate, including the duration and frequency that is considered appropriate for the item or service,
in terms of whether it is furnished in accordance with accepted standards of medical practice for the diagnosis of the
patient's condition; furnished in a setting appropriate to the patient's medical needs and condition; ordered and
furnished by qualified personnel; one that meets, but does not exceed, the patient's medical need; and is at least as
beneficial as an existing and available medically appropriate alternative.
C ompliance with the provisions in this policy is subject to monitoring by post payment data analysis and subsequent
medical review. Title XVIII of the Social Security Act, Section 1862(a)(1)(A) states " ...no Medicare payment shall be
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Proprietary Information of UnitedHealthcare. Copyright 2019 United HealthCare Services, Inc.made for items or services which are not reasonable and necessary for the diagnosis and treatment of illness or
injury...". Furthermore, it has been longstanding C MS policy that "tests that are performed in the absence of
signs, symptoms, complaints, or personal history of disease or injury are not covered unless explicitly
authorized by statute". Screening services, such as pre-symptomatic genetic tests and services, are those
used to detect an undiagnosed disease or disease predisposition, and as such are not a Medicare benefit
and not covered by Medicare. Similarly, Medicare may not reimburse the costs of tests/examinations that assess
the risk for and/or of a condition unless the risk assessment clearly and directly effects the management of the patient.
However, Medicare does cover a broad range of legislatively mandated preventive services to prevent disease, detect
disease early when it is most treatable and curable, and manage disease so that complications can be avoided. These
services can be found on the C MS website at http://www.cms.gov/PrevntionGenInfo/. Any preventive services and
tests whether listed on the C MS Preventive Services webpage or not,are considered non-covered screening
(preventive) tests or services which are not a benefit of the Medicare program.
Per 42 C ode of Federal Regulations (C FR) section 410.32 (a) states the following requirements: All diagnostic x-rays
tests, diagnostic laboratory tests, and other diagnostic tests must be ordered by the physician who is treating the
beneficiary, that is, the physician who furnishes a consultation or treats a beneficiary for a specific medical problem
and who uses the results in the management of the beneficiary’s specific medical problem. Tests not ordered by the
physician who is treating the beneficiary are not reasonable and necessary (see 411.15(k)(1)). Also, see Medicare
Benefit Policy Manual (100-02), C hapter 15, Section 80.6 for related physician order instructions.
Laboratory services must meet all applicable requirements of the C linical Laboratory Improvement Amendments of
1988 (C LIA), as set forth at 42 C FR part 493. Section 1862(a)(1)(A) of the Act provides that Medicare payment may
not be made for services that are not reasonable and necessary. C linical laboratory services must be ordered and
used promptly by the physician who is treating the beneficiary as described in 42 C FR 410.32(a), or by a qualified
nonphysician practitioner, as described in 42 C FR 410.32(a)(3).
Many applications of the molecular pathology procedures are not covered services given lack of benefit category
(preventive service) and/or failure to reach the reasonable and necessary threshold for coverage (based on quality of
clinical evidence and strength of recommendation). Furthermore, payment of claims in the past (based on stacking
codes) or in the future (based on the new code series) is not a statement of coverage since the service was not
audited for compliance with program requirements and documentation supporting the reasonable and necessary
testing for the beneficiary. C ertain tests and procedures may be subject to prepayment medical review (records
requested) and paid claims must be supportable, if selected, for post payment audit by the MAC or other contractors.
Tests for diseases or conditions that manifest severe signs or symptoms in newborns and in early childhood or that
result in early death (e.g., C anavan disease) could be subject to automatic denials since these tests are not usually
relevant to a Medicare beneficiary.
Documentation Guidelines
Documentation must be adequate to verify that coverage guidelines listed above have been met. Thus, the medical
record must contain documentation that the testing is expected to influence treatment of the condition toward which
the testing is directed. The laboratory or billing provider must have on file the physician requisition which sets forth
the diagnosis or condition that warrants the test(s).
Examples of documentation requirements of the ordering physician/nonphysician practitioner (NPP) include, but are
not limited to, history and physical or exam findings that support the decision making, problems/diagnoses, relevant
data (e.g., lab testing, imaging results).
Documentation requirements of the performing laboratory (when requested) include, but are not limited to, lab
accreditation, test requisition, test record/procedures, reports (preliminary and final), and quality control record.
Documentation requirements for lab developed tests/protocols (when requested) include diagnostic test/assay,
lab/manufacturer, names of comparable assays/services (if relevant), description of assay, analytical validity evidence,
clinical validity evidence, and clinical utility.
Providers are required to code to specificity however, if an unlisted C PT code is used the documentation must clearly
identify the unique procedure performed. When multiple procedure codes are submitted on a claim (unique and/or
unlisted) the documentation supporting each code should be easily identifiable. If on review the contractor cannot link
a billed code to the documentation, these services will be denied based on Title XVIII of the Social Security Act,
§1833(e).
When the documentation does not meet the criteria for the service rendered or the documentation does not establish
the medical necessity for the services, such services will be denied as not reasonable and necessary under Section
1862(a)(1)(A) of the Social Security Act.
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The following list(s) of codes is provided for reference purposes only and may not be all inclusive. Listing of a code in
this guideline does not imply that the service described by the code is a covered or non-covered health service.
Benefit coverage for health services is determined by the member specific benefit plan document and applicable laws
that may require coverage for a specific service. The inclusion of a code does not imply any right to reimbursement or
guarantee claim payment. Other Policies and Guidelines may apply.
C PT C ode Description
Human Platelet Antigen 1 genotyping (HPA-1), ITGB3 (integrin, beta 3 [platelet
glycoprotein IIIa], antigen C D61 [GPIIIa]) (eg, neonatal alloimmune
81105
thrombocytopenia [NAIT], post-transfusion purpura), gene analysis, common variant,
HPA-1a/b (L33P)
Human Platelet Antigen 2 genotyping (HPA-2), GP1BA (glycoprotein Ib [platelet],
81106 alpha polypeptide [GPIba]) (eg, neonatal alloimmune thrombocytopenia [NAIT],
post-transfusion purpura), gene analysis, common variant, HPA-2a/b (T145M)
Human Platelet Antigen 3 genotyping (HPA-3), ITGA2B (integrin, alpha 2b [platelet
glycoprotein IIb of IIb/IIIa complex], antigen C D41 [GPIIb]) (eg, neonatal
81107
alloimmune thrombocytopenia [NAIT], post-transfusion purpura), gene analysis,
common variant, HPA-3a/b (I843S)
Human Platelet Antigen 4 genotyping (HPA-4), ITGB3 (integrin, beta 3 [platelet
glycoprotein IIIa], antigen C D61 [GPIIIa]) (eg, neonatal alloimmune
81108
thrombocytopenia [NAIT], post-transfusion purpura), gene analysis, common variant,
HPA-4a/b (R143Q)
Human Platelet Antigen 5 genotyping (HPA-5), ITGA2 (integrin, alpha 2 [C D49B,
alpha 2 subunit of VLA-2 receptor] [GPIa]) (eg, neonatal alloimmune
81109
thrombocytopenia [NAIT], post-transfusion purpura), gene analysis, common variant
(eg, HPA-5a/b (K505E))
Human Platelet Antigen 6 genotyping (HPA-6w), ITGB3 (integrin, beta 3 [platelet
glycoprotein IIIa, antigen C D61] [GPIIIa]) (eg, neonatal alloimmune
81110
thrombocytopenia [NAIT], post-transfusion purpura), gene analysis, common variant,
HPA-6a/b (R489Q)
Human Platelet Antigen 9 genotyping (HPA-9w), ITGA2B (integrin, alpha 2b [platelet
glycoprotein IIb of IIb/IIIa complex, antigen C D41] [GPIIb]) (eg, neonatal
81111
alloimmune thrombocytopenia [NAIT], post-transfusion purpura), gene analysis,
common variant, HPA-9a/b (V837M)
Human Platelet Antigen 15 genotyping (HPA-15), C D109 (C D109 molecule) (eg,
81112 neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), gene
analysis, common variant, HPA-15a/b (S682Y)
IDH1 (isocitrate dehydrogenase 1 [NADP+], soluble) (e.g., glioma), common variants
81120
(e.g., R132H, R132C ) (Effective 01/01/2018)
IDH2 (isocitrate dehydrogenase 2 [NADP+], mitochondrial) (e.g., glioma), common
81121
variants (e.g., R140W, R172M) (Effective 01/01/2018)
DMD (dystrophin) (e.g., Duchenne/Becker muscular dystrophy) deletion analysis,
81161
and duplication analysis, if performed
BRC A1 (BRC A1, DNA repair associated), BRC A2 (BRC A2, DNA repair associated)
81162 (e.g., hereditary breast and ovarian cancer) gene analysis; full sequence analysis and
full duplication/deletion analysis (ie, detection of large gene rearrangements)
BRC A1 (BRC A1, DNA repair associated), BRC A2 (BRC A2, DNA repair associated) (eg,
81163 hereditary breast and ovarian cancer) gene analysis; full sequence analysis
(Effective 01/01/2019)
BRC A1 (BRC A1, DNA repair associated), BRC A2 (BRC A2, DNA repair associated) (eg,
81164 hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis
(ie, detection of large gene rearrangements) (Effective 01/01/2019)
BRC A1 (BRC A1, DNA repair associated) (eg, hereditary breast and ovarian cancer)
81165
gene analysis; full sequence analysis (Effective 01/01/2019)
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BRC A1 (BRC A1, DNA repair associated) (eg, hereditary breast and ovarian cancer)
81166 gene analysis; full duplication/deletion analysis (ie, detection of large gene
rearrangements) (Effective 01/01/2019)
BRC A2 (BRC A2, DNA repair associated) (eg, hereditary breast and ovarian cancer)
81167 gene analysis; full duplication/deletion analysis (ie, detection of large gene
rearrangements) (Effective 01/01/2019)
ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) (e.g., acquired imatinib
81170
tyrosine kinase inhibitor resistance), gene analysis, variants in the kinase domain
AFF2 (AF4/FMR2 family, member 2 [FMR2]) (eg, fragile X mental retardation 2
81171
[FRAXE]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles
AFF2 (AF4/FMR2 family, member 2 [FMR2]) (eg, fragile X mental retardation 2
81172 [FRAXE]) gene analysis; characterization of alleles (eg, expanded size and
methylation status) (Effective 01/01/2019)
AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X
81173 chromosome inactivation) gene analysis; full gene sequence (Effective
01/01/2019)
AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X
81174 chromosome inactivation) gene analysis; known familial variant (Effective
01/01/2019)
ASXL1 (additional sex combs like 1, transcriptional regulator) (e.g., myelodysplastic
81175 syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene
analysis; full gene sequence (Effective 01/01/2018)
ASXL1 (additional sex combs like 1, transcriptional regulator) (e.g., myelodysplastic
81176 syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene
analysis; targeted sequence analysis (e.g., exon 12) (Effective 01/01/2018)
ATN1 (atrophin 1) (eg, dentatorubral-pallidoluysian atrophy) gene analysis,
81177
evaluation to detect abnormal (eg, expanded) alleles (Effective 01/01/2019)
ATXN1 (ataxin 1) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect
81178
abnormal (eg, expanded) alleles (Effective 01/01/2019)
ATXN2 (ataxin 2) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect
81179
abnormal (eg, expanded) alleles (Effective 01/01/2019)
ATXN3 (ataxin 3) (eg, spinocerebellar ataxia, Machado-Joseph disease) gene
81180 analysis, evaluation to detect abnormal (eg, expanded) alleles (Effective
01/01/2019)
ATXN7 (ataxin 7) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect
81181
abnormal (eg, expanded) alleles (Effective 01/01/2019)
ATXN8OS (ATXN8 opposite strand [non-protein coding]) (eg, spinocerebellar ataxia)
81182 gene analysis, evaluation to detect abnormal (eg, expanded) alleles
(Effective 01/01/2019)
ATXN10 (ataxin 10) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect
81183
abnormal (eg, expanded) alleles (Effective 01/01/2019)
C AC NA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar
81184 ataxia) gene analysis; evaluation to detect abnormal (eg, expanded) alleles
(Effective 01/01/2019)
C AC NA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar
81185
ataxia) gene analysis; full gene sequence (Effective 01/01/2019)
C AC NA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar
81186
ataxia) gene analysis; known familial variant (Effective 01/01/2019)
C NBP (C C HC -type zinc finger nucleic acid binding protein) (eg, myotonic dystrophy
81187 type 2) gene analysis, evaluation to detect abnormal (eg, expanded) alleles
(Effective 01/01/2019)
C STB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; evaluation to
81188
detect abnormal (eg, expanded) alleles (Effective 01/01/2019)
C STB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; full gene
81189
sequence (Effective 01/01/2019)
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C STB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; known familial
81190
variant(s) (Effective 01/01/2019)
ASPA (aspartoacylase) (e.g., C anavan disease) gene analysis, common variants
81200
(e.g., E285A, Y231X)
APC (adenomatous polyposis coli) (e.g., familial adenomatosis polyposis [FAP],
81201
attenuated FAP) gene analysis; full gene sequence
APC (adenomatous polyposis coli) (e.g., familial adenomatosis polyposis [FAP],
81202
attenuated FAP) gene analysis; known familial variants
APC (adenomatous polyposis coli) (e.g., familial adenomatosis polyposis [FAP],
81203
attenuated FAP) gene analysis; duplication/deletion variants
AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X
81204 chromosome inactivation) gene analysis; characterization of alleles (eg, expanded
size or methylation status) (Effective 01/01/2019)
BC KDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (e.g.,
81205 Maple syrup urine disease) gene analysis, common variants (e.g., R183P, G278S,
E422X)
BC R/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis;
81206
major breakpoint, qualitative or quantitative
BC R/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis;
81207
minor breakpoint, qualitative or quantitative
BC R/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis;
81208
other breakpoint, qualitative or quantitative
BLM (Bloom syndrome, RecQ helicase-like) (e.g., Bloom syndrome) gene analysis,
81209
2281del6ins7 variant
BRAF (B-Raf proto-oncogene, serine/threonine kinase) (e.g., colon cancer,
81210
melanoma), gene analysis, V600 variant(s)
BRC A1, BRC A2 (breast cancer 1 and 2) (e.g., hereditary breast and ovarian cancer)
gene analysis; full sequence analysis and common duplication/deletion variants in
81211
BRC A1 (i.e., exon 13 del 3.835kb, exon 13 dup 6kb, exon 14-20 del 26kb, exon 22
del 510bp, exon 8-9 del 7.1kb) (Expired 12/31/2018 – See 81162-81164)
BRC A1 (BRC A1, DNA repair associated), BRC A2 (BRC A2, DNA repair associated)
81212 (e.g., hereditary breast and ovarian cancer) gene analysis; 185delAG, 5385insC ,
6174delT variants
BRC A1, BRC A2 (breast cancer 1 and 2) (e.g., hereditary breast and ovarian cancer)
81213 gene analysis; uncommon duplication/deletion variants (Expired 12/31/2018 –
See 81162-81164)
BRC A1 (breast cancer 1) (e.g., hereditary breast and ovarian cancer) gene analysis;
full sequence analysis and common duplication/deletion variants (i.e., exon 13 del
81214
3.835kb, exon 13 dup 6kb, exon 14-20 del 26kb, exon 22 del 510bp, exon 8-9 del
7.1kb) (Expired 12/31/2018 – See 81165-81166)
BRC A1 (BRC A1, DNA repair associated) (e.g., hereditary breast and ovarian cancer)
81215
gene analysis; known familial variant
BRC A2 (BRC A2, DNA repair associated) (e.g., hereditary breast and ovarian cancer)
81216
gene analysis; full sequence analysis
BRC A2 (BRC A2, DNA repair associated) (e.g., hereditary breast and ovarian cancer)
81217
gene analysis; known familial variant
C EBPA (C C AAT/enhancer binding protein [C /EBP], alpha) (e.g., acute myeloid
81218
leukemia), gene analysis, full gene sequence
C ALR (calreticulin) (e.g., myeloproliferative disorders), gene analysis, common
81219
variants in exon 9
C FTR (cystic fibrosis transmembrane conductance regulator) (e.g., cystic fibrosis)
81220
gene analysis; common variants (e.g., AC MG/AC OG guidelines)
C FTR (cystic fibrosis transmembrane conductance regulator) (e.g., cystic fibrosis)
81221
gene analysis; known familial variants
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C FTR (cystic fibrosis transmembrane conductance regulator) (e.g., cystic fibrosis)
81222
gene analysis; duplication/deletion variants
C FTR (cystic fibrosis transmembrane conductance regulator) (e.g., cystic fibrosis)
81223
gene analysis; full gene sequence
C FTR (cystic fibrosis transmembrane conductance regulator) (e.g., cystic fibrosis)
81224
gene analysis; intron 8 poly-T analysis (e.g., male infertility)
C YP2C 19 (cytochrome P450, family 2, subfamily C , polypeptide 19) (e.g., drug
81225
metabolism), gene analysis, common variants (e.g., *2, *3, *4, *8, *17)
C YP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (e.g., drug
81226 metabolism), gene analysis, common variants (e.g., *2, *3, *4, *5, *6, *9, *10,
*17, *19, *29, *35, *41, *1XN, *2XN, *4XN)
C YP2C 9 (cytochrome P450, family 2, subfamily C , polypeptide 9) (e.g., drug
81227
metabolism), gene analysis, common variants (e.g., *2, *3, *5, *6)
C ytogenomic constitutional (genome-wide) microarray analysis; interrogation of
81228 genomic regions for copy number variants (e.g., Bacterial Artificial C hromosome
[BAC ] or oligo-based comparative genomic hybridization [C GH] microarray analysis)
C ytogenomic constitutional (genome-wide) microarray analysis; interrogation of
81229 genomic regions for copy number and single nucleotide polymorphism (SNP) variants
for chromosomal abnormalities
C YP3A4 (cytochrome P450 family 3 subfamily A member 4) (e.g., drug metabolism),
81230
gene analysis, common variant(s) (e.g., *2, *22) (Effective 01/01/2018)
C YP3A5 (cytochrome P450 family 3 subfamily A member 5) (e.g., drug metabolism),
81231 gene analysis, common variants (e.g., *2, *3, *4, *5, *6, *7)
(Effective 01/01/2018)
DPYD (dihydropyrimidine dehydrogenase) (e.g., 5-fluorouracil/5-FU and capecitabine
81232 drug metabolism), gene analysis, common variant(s) (e.g., *2A, *4, *5, *6)
(Effective 01/01/2018)
BTK (Bruton's tyrosine kinase) (eg, chronic lymphocytic leukemia) gene analysis,
81233
common variants (eg, C 481S, C 481R, C 481F) (Effective 01/01/2019)
DMPK (DM1 protein kinase) (eg, myotonic dystrophy type 1) gene analysis;
81234
evaluation to detect abnormal (expanded) alleles (Effective 01/01/2019)
EGFR (epidermal growth factor receptor) (e.g., non-small cell lung cancer) gene
81235 analysis, common variants (e.g., exon 19 LREA deletion, L858R, T790M, G719A,
G719S, L861Q)
EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) (eg,
81236 myelodysplastic syndrome, myeloproliferative neoplasms) gene analysis, full gene
sequence (Effective 01/01/2019)
EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) (eg, diffuse large
81237 B-cell lymphoma) gene analysis, common variant(s) (eg, codon 646)
(Effective 01/01/2019)
F9 (coagulation factor IX) (e.g., hemophilia B), full gene sequence (Effective
81238
01/01/2018)
DMPK (DM1 protein kinase) (eg, myotonic dystrophy type 1) gene analysis;
81239
characterization of alleles (eg, expanded size) (Effective 01/01/2019)
F2 (prothrombin, coagulation factor II) (e.g., hereditary hypercoagulability) gene
81240
analysis, 20210G>A variant
F5 (coagulation Factor V) (e.g., hereditary hypercoagulability) gene analysis, Leiden
81241
variant
FANC C (Fanconi anemia, complementation group C ) (e.g., Fanconi anemia, type C )
81242
gene analysis, common variant (e.g., IVS4+4A>T)
FMR1 (Fragile X mental retardation 1) (e.g., fragile X mental retardation) gene
81243
analysis; evaluation to detect abnormal (e.g., expanded) alleles
FMR1 (Fragile X mental retardation 1) (e.g., fragile X mental retardation) gene
81244 analysis; characterization of alleles (e.g., expanded size and promoter methylation
status)
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FLT3 (FMS-related tyrosine kinase 3) (e.g., acute myeloid leukemia), gene analysis,
81245
internal tandem duplication (ITD) variants (i.e., exons 14, 15)
G6PD (glucose-6-phosphate dehydrogenase) (e.g., hemolytic anemia, jaundice),
81247
gene analysis; common variant(s) (e.g., A, A-) (Effective 01/01/2018)
G6PD (glucose-6-phosphate dehydrogenase) (e.g., hemolytic anemia, jaundice),
81248
gene analysis; known familial variant(s) (Effective 01/01/2018)
G6PD (glucose-6-phosphate dehydrogenase) (e.g., hemolytic anemia, jaundice),
81249
gene analysis; full gene sequence (Effective 01/01/2018)
G6PC (glucose-6-phosphatase, catalytic subunit) (e.g., Glycogen storage disease,
81250
Type 1a, von Gierke disease) gene analysis, common variants (e.g., R83C , Q347X)
GBA (glucosidase, beta, acid) (e.g., Gaucher disease) gene analysis, common
81251
variants (e.g., N370S, 84GG, L444P, IVS2+1G>A)
GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (e.g., nonsyndromic hearing
81252
loss) gene analysis; full gene sequence
GJB2 (gap junction protein, beta 2, 26kDa; connexin 26) (e.g., nonsyndromic
81253
hearing loss) gene analysis; known familial variants
GJB6 (gap junction protein, beta 6, 30kDa, connexin 30) (e.g., nonsyndromic hearing
81254 loss) gene analysis, common variants (e.g., 309kb [del(GJB6-D13S1830)] and 232kb
[del(GJB6-D13S1854)])
HEXA (hexosaminidase A [alpha polypeptide]) (e.g., Tay-Sachs disease) gene
81255
analysis, common variants (e.g., 1278insTATC , 1421+1G>C , G269S)
HFE (hemochromatosis) (e.g., hereditary hemochromatosis) gene analysis, common
81256
variants (e.g., C 282Y, H63D)
HBA1/HBA2 (alpha globin 1 and alpha globin 2) (e.g., alpha thalassemia, Hb Bart
hydrops fetalis syndrome, HbH disease), gene analysis; common deletions or variant
81257
(e.g., Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5,
C onstant Spring)
HBA1/HBA2 (alpha globin 1 and alpha globin 2) (e.g., alpha thalassemia, Hb Bart
81258 hydrops fetalis syndrome, HbH disease), gene analysis; known familial variant
(Effective 01/01/2018)
HBA1/HBA2 (alpha globin 1 and alpha globin 2) (e.g., alpha thalassemia, Hb Bart
81259 hydrops fetalis syndrome, HbH disease), gene analysis; full gene sequence
(Effective 01/01/2018)
IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase
81260 complex-associated protein) (e.g., familial dysautonomia) gene analysis, common
variants (e.g., 2507+6T>C , R696P)
IGH@ (Immunoglobulin heavy chain locus) (e.g., leukemias and lymphomas, B-cell),
81261 gene rearrangement analysis to detect abnormal clonal population(s); amplified
methodology (e.g., polymerase chain reaction)
IGH@ (Immunoglobulin heavy chain locus) (e.g., leukemias and lymphomas, B-cell),
81262 gene rearrangement analysis to detect abnormal clonal population(s); direct probe
methodology (e.g., Southern blot)
IGH@ (Immunoglobulin heavy chain locus) (e.g., leukemia and lymphoma, B-cell),
81263
variable region somatic mutation analysis
IGK@ (Immunoglobulin kappa light chain locus) (e.g., leukemia and lymphoma, B-
81264 cell), gene rearrangement analysis, evaluation to detect abnormal clonal
population(s)
C omparative analysis using Short Tandem Repeat (STR) markers; patient and
comparative specimen (e.g., pre-transplant recipient and donor germline testing,
81265 post-transplant non-hematopoietic recipient germline [e.g., buccal swab or other
germline tissue sample] and donor testing, twin zygosity testing, or maternal cell
contamination of fetal cells)
C omparative analysis using Short Tandem Repeat (STR) markers; each additional
specimen (e.g., additional cord blood donor, additional fetal samples from different
81266
cultures, or additional zygosity in multiple birth pregnancies) (List separately in
addition to code for primary procedure)
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C himerism (engraftment) analysis, post transplantation specimen (e.g.,
81267 hematopoietic stem cell), includes comparison to previously performed baseline
analyses; without cell selection
C himerism (engraftment) analysis, post transplantation specimen (e.g.,
81268 hematopoietic stem cell), includes comparison to previously performed baseline
analyses; with cell selection (e.g., C D3, C D33), each cell type
HBA1/HBA2 (alpha globin 1 and alpha globin 2) (e.g., alpha thalassemia, Hb Bart
81269 hydrops fetalis syndrome, HbH disease), gene analysis; duplication/deletion variants
(Effective 01/01/2018)
JAK2 (Janus kinase 2) (e.g., myeloproliferative disorder) gene analysis, p.Val617Phe
81270
(V617F) variant
HTT (huntingtin) (eg, Huntington disease) gene analysis; evaluation to detect
81271
abnormal (eg, expanded) alleles (Effective 01/01/2019)
KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (e.g.,
81272 gastrointestinal stromal tumor [GIST], acute myeloid leukemia, melanoma), gene
analysis, targeted sequence analysis (e.g., exons 8, 11, 13, 17, 18)
KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (e.g.,
81273
mastocytosis), gene analysis, D816 variant(s)
KRAS (Kirsten rat sarcoma viral oncogene homolog) (e.g., carcinoma) gene analysis;
81275
variants in exon 2 (e.g., codons 12 and 13)
KRAS (Kirsten rat sarcoma viral oncogene homolog) (e.g., carcinoma) gene analysis;
81276
additional variant(s) (e.g., codon 61, codon 146)
IFNL3 (interferon, lambda 3) (e.g., drug response), gene analysis, rs12979860
81283
variant (Effective 01/01/2018)
MGMT (O-6-methylguanine-DNA methyltransferase) (e.g., glioblastoma multiforme),
81287
methylation analysis
MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (e.g., hereditary non-
81288 polyposis colorectal cancer, Lynch syndrome) gene analysis; promoter methylation
analysis
MC OLN1 (mucolipin 1) (e.g., Mucolipidosis, type IV) gene analysis, common variants
81290
(e.g., IVS3-2A>G, del6.4kb)
MTHFR (5,10-methylenetetrahydrofolate reductase) (e.g., hereditary
81291
hypercoagulability) gene analysis, common variants (e.g., 677T, 1298C )
MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (e.g., hereditary non-
81292
polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis
MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (e.g., hereditary non-
81293
polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants
MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (e.g., hereditary non-
81294 polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion
variants
MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (e.g., hereditary non-
81295
polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis
MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (e.g., hereditary non-
81296
polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants
MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (e.g., hereditary non-
81297 polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion
variants
MSH6 (mutS homolog 6 [E. coli]) (e.g. hereditary non-polyposis colorectal cancer,
81298
Lynch syndrome) gene analysis; full sequence analysis
MSH6 (mutS homolog 6 [E. coli]) (e.g., hereditary non-polyposis colorectal cancer,
81299
Lynch syndrome) gene analysis; known familial variants
MSH6 (mutS homolog 6 [E. coli]) (e.g., hereditary non-polyposis colorectal cancer,
81300
Lynch syndrome) gene analysis; duplication/deletion variants
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Microsatellite instability analysis (e.g., hereditary non-polyposis colorectal cancer,
81301 Lynch syndrome) of markers for mismatch repair deficiency (e.g., BAT25, BAT26),
includes comparison of neoplastic and normal tissue, if performed
MEC P2 (methyl C pG binding protein 2) (e.g., Rett syndrome) gene analysis; full
81302
sequence analysis
MEC P2 (methyl C pG binding protein 2) (e.g., Rett syndrome) gene analysis; known
81303
familial variant
MEC P2 (methyl C pG binding protein 2) (e.g., Rett syndrome) gene analysis;
81304
duplication/deletion variants
MYD88 (myeloid differentiation primary response 88) (eg, Waldenstrom's
81305 macroglobulinemia, lymphoplasmacytic leukemia) gene analysis, p.Leu265Pro
(L265P) variant (Effective 01/01/2019)
NPM1 (nucleophosmin) (e.g., acute myeloid leukemia) gene analysis, exon 12
81310
variants
NRAS (neuroblastoma RAS viral [v-ras] oncogene homolog) (e.g., colorectal
81311 carcinoma), gene analysis, variants in exon 2 (e.g., codons 12 and 13) and exon 3
(e.g., codon 61)
PC A3/KLK3 (prostate cancer antigen 3 [non-protein coding]/kallikrein-related
81313
peptidase 3 [prostate specific antigen]) ratio (e.g., prostate cancer)
PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) (e.g.,
81314 gastrointestinal stromal tumor [GIST]), gene analysis, targeted sequence analysis
(e.g., exons 12, 18)
PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha)
81315 (e.g., promyelocytic leukemia) translocation analysis; common breakpoints (e.g.,
intron 3 and intron 6), qualitative or quantitative
PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha)
81316 (e.g., promyelocytic leukemia) translocation analysis; single breakpoint (e.g., intron
3, intron 6 or exon 6), qualitative or quantitative
PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (e.g., hereditary non-
81317
polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis
PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (e.g., hereditary non-
81318
polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants
PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (e.g., hereditary non-
81319 polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion
variants
PLC G2 (phospholipase C gamma 2) (eg, chronic lymphocytic leukemia) gene
81320
analysis, common variants (eg, R665W, S707F, L845F) (Effective 01/01/2019)
PTEN (phosphatase and tensin homolog) (e.g., C owden syndrome, PTEN hamartoma
81321
tumor syndrome) gene analysis; full sequence analysis
PTEN (phosphatase and tensin homolog) (e.g., C owden syndrome, PTEN hamartoma
81322
tumor syndrome) gene analysis; known familial variant
PTEN (phosphatase and tensin homolog) (e.g., C owden syndrome, PTEN hamartoma
81323
tumor syndrome) gene analysis; duplication/deletion variant
PMP22 (peripheral myelin protein 22) (e.g., C harcot-Marie-Tooth, hereditary
81324 neuropathy with liability to pressure palsies) gene analysis; duplication/deletion
analysis
PMP22 (peripheral myelin protein 22) (e.g., C harcot-Marie-Tooth, hereditary
81325
neuropathy with liability to pressure palsies) gene analysis; full sequence analysis
PMP22 (peripheral myelin protein 22) (e.g., C harcot-Marie-Tooth, hereditary
81326
neuropathy with liability to pressure palsies) gene analysis; known familial variant
81327 SEPT9 (Septin9) (e.g., colorectal cancer) promotor methylation analysis
SLC O1B1 (solute carrier organic anion transporter family, member 1B1) (e.g.,
81328 adverse drug reaction), gene analysis, common variant(s) (e.g., *5)
(Effective 01/01/2018)
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SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene
81329 analysis; dosage/deletion analysis (eg, carrier testing), includes SMN2 (survival of
motor neuron 2, centromeric) analysis, if performed (Effective 01/01/2019)
SMPD1(sphingomyelin phosphodiesterase 1, acid lysosomal) (e.g., Niemann-Pick
81330
disease, Type A) gene analysis, common variants (e.g., R496L, L302P, fsP330)
SNRPN/UBE3A (small nuclear ribonucleoprotein polypeptide N and ubiquitin protein
81331 ligase E3A) (e.g., Prader-Willi syndrome and/or Angelman syndrome), methylation
analysis
SERPINA1 (serpin peptidase inhibitor, clade A, alpha-1 antiproteinase, antitrypsin,
81332 member 1) (e.g., alpha-1-antitrypsin deficiency), gene analysis, common variants
(e.g., *S and *Z)
RUNX1 (runt related transcription factor 1) (e.g., acute myeloid leukemia, familial
81334 platelet disorder with associated myeloid malignancy), gene analysis, targeted
sequence analysis (e.g., exons 3-8) (Effective 01/01/2018)
TPMT (thiopurine S-methyltransferase) (e.g., drug metabolism), gene analysis,
81335
common variants (e.g., *2, *3) (Effective 01/01/2018)
SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene
81336
analysis; full gene sequence (Effective 01/01/2019)
SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene
81337
analysis; known familial sequence variant(s) (Effective 01/01/2019)
TRB@ (T cell antigen receptor, beta) (e.g., leukemia and lymphoma), gene
81340 rearrangement analysis to detect abnormal clonal population(s); using amplification
methodology (e.g., polymerase chain reaction)
TRB@ (T cell antigen receptor, beta) (e.g., leukemia and lymphoma), gene
81341 rearrangement analysis to detect abnormal clonal population(s); using direct probe
methodology (e.g., Southern blot)
TRG@ (T cell antigen receptor, gamma) (e.g., leukemia and lymphoma), gene
81342
rearrangement analysis, evaluation to detect abnormal clonal population(s)
TERT (telomerase reverse transcriptase) (eg, thyroid carcinoma, glioblastoma
81345 multiforme) gene analysis, targeted sequence analysis (eg, promoter region)
(Effective 01/01/2019)
TYMS (thymidylate synthetase) (e.g., 5-fluorouracil/5-FU drug metabolism), gene
81346
analysis, common variant(s) (e.g., tandem repeat variant) (Effective 01/01/2018)
UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (e.g., irinotecan
81350
metabolism), gene analysis, common variants (e.g., *28, *36, *37)
VKORC 1 (vitamin K epoxide reductase complex, subunit 1) (e.g., warfarin
81355
metabolism), gene analysis, common variants (e.g., -1639G>A, c.173+1000C >T)
HBB (hemoglobin, subunit beta) (e.g., sickle cell anemia, beta thalassemia,
81361 hemoglobinopathy); common variant(s) (e.g., HbS, HbC , HbE)
(Effective 01/01/2018)
HBB (hemoglobin, subunit beta) (e.g., sickle cell anemia, beta thalassemia,
81362
hemoglobinopathy); known familial variant(s) (Effective 01/01/2018)
HBB (hemoglobin, subunit beta) (e.g., sickle cell anemia, beta thalassemia,
81363
hemoglobinopathy); duplication/deletion variant(s) (Effective 01/01/2018)
HBB (hemoglobin, subunit beta) (e.g., sickle cell anemia, beta thalassemia,
81364
hemoglobinopathy); full gene sequence (Effective 01/01/2018)
HLA C lass I and II typing, low resolution (e.g., antigen equivalents); HLA-A, -B, -C , -
81370
DRB1/3/4/5, and -DQB1
HLA C lass I and II typing, low resolution (e.g., antigen equivalents); HLA-A, -B, and -
81371
DRB1/3/4/5 (e.g., verification typing)
HLA C lass I typing, low resolution (e.g., antigen equivalents); complete (i.e., HLA-A,
81372
-B, and -C )
HLA C lass I typing, low resolution (e.g., antigen equivalents); one locus (e.g., HLA-A,
81373
-B, or -C ), each
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HLA C lass I typing, low resolution (e.g., antigen equivalents); one antigen equivalent
81374
(e.g., B*27), each
HLA C lass II typing, low resolution (e.g., antigen equivalents); HLA-DRB1/3/4/5 and
81375
-DQB1
HLA C lass II typing, low resolution (e.g., antigen equivalents); one locus (e.g., HLA-
81376
DRB1/3/4/5, -DQB1, -DQA1, -DPB1, or -DPA1), each
HLA C lass II typing, low resolution (e.g., antigen equivalents); one antigen
81377
equivalent, each
HLA C lass I and II typing, high resolution (ie, alleles or allele groups), HLA-A, -B, -C ,
81378
and -DRB1
HLA C lass I typing, high resolution (i.e., alleles or allele groups); complete (i.e., HLA-
81379
A, -B, and -C )
HLA C lass I typing, high resolution (i.e., alleles or allele groups); one locus (e.g.,
81380
HLA-A, -B, or -C ), each
HLA C lass I typing, high resolution (i.e., alleles or allele groups); one allele or allele
81381
group (e.g., B*57:01P), each
HLA C lass II typing, high resolution (i.e., alleles or allele groups); one locus (e.g.,
81382
HLA-DRB1, -DRB3, -DRB4, -DRB5, -DQB1, -DQA1, -DPB1, or -DPA1), each
HLA C lass II typing, high resolution (i.e., alleles or allele groups); one allele or allele
81383
group (e.g., HLA-DQB1*06:02P), each
81400 Molecular pathology procedure, Level 1 analysis (short description)
81401 Molecular pathology procedure, Level 2 analysis (short description)
81402 Molecular pathology procedure, Level 3 analysis (short description)
81403 Molecular pathology procedure, Level 4 analysis (short description)
81404 Molecular pathology procedure, Level 5 analysis (short description)
81405 Molecular pathology procedure, Level 6 analysis (short description)
81406 Molecular pathology procedure, Level 7 analysis (short description)
81407 Molecular pathology procedure, Level 8 analysis (short description)
81408 Molecular pathology procedure, Level 9 analysis (short description)
Aortic dysfunction or dilation (e.g., Marfan syndrome, Loeys Dietz syndrome, Ehler
Danlos syndrome type IV, arterial tortuosity syndrome); genomic sequence analysis
81410
panel, must include sequencing of at least 9 genes, including FBN1, TGFBR1,
TGFBR2, C OL3A1, MYH11, AC TA2, SLC 2A10, SMAD3, and MYLK
Aortic dysfunction or dilation (e.g., Marfan syndrome, Loeys Dietz syndrome, Ehler
81411 Danlos syndrome type IV, arterial tortuosity syndrome); duplication/deletion analysis
panel, must include analyses for TGFBR1, TGFBR2, MYH11, and C OL3A1
Ashkenazi Jewish associated disorders (e.g., Bloom syndrome, C anavan disease,
cystic fibrosis, familial dysautonomia, Fanconi anemia group C , Gaucher disease,
81412 Tay-Sachs disease), genomic sequence analysis panel, must include sequencing of at
least 9 genes, including ASPA, BLM, C FTR, FANC C , GBA, HEXA, IKBKAP, MC OLN1,
and SMPD1
C ardiac ion channelopathies (e.g., Brugada syndrome, long QT syndrome, short QT
syndrome, catecholaminergic polymorphic ventricular tachycardia); genomic
81413
sequence analysis panel, must include sequencing of at least 10 genes, including
ANK2, C ASQ2, C AV3, KC NE1, KC NE2, KC NH2, KC NJ2, KC NQ1, RYR2, and SC N5A
C ardiac ion channelopathies (e.g., Brugada syndrome, long QT syndrome, short QT
syndrome, catecholaminergic polymorphic ventricular tachycardia);
81414
duplication/deletion gene analysis panel, must include analysis of at least 2 genes,
including KC NH2 and KC NQ1
Exome (e.g., unexplained constitutional or heritable disorder or syndrome); sequence
81415
analysis
Exome (e.g., unexplained constitutional or heritable disorder or syndrome); sequence
81416 analysis, each comparator exome (e.g., parents, siblings) (List separately in addition
to code for primary procedure)
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Exome (e.g., unexplained constitutional or heritable disorder or syndrome); re-
81417 evaluation of previously obtained exome sequence (e.g., updated knowledge or
unrelated condition/syndrome)
Fetal chromosomal aneuploidy (e.g., trisomy 21, monosomy X) genomic sequence
81420 analysis panel, circulating cell-free fetal DNA in maternal blood, must include analysis
of chromosomes 13, 18, and 21
Fetal chromosomal microdeletion(s) genomic sequence analysis (e.g., DiGeorge
81422
syndrome, C ri-du-chat syndrome), circulating cell-free fetal DNA in maternal blood
Genome (e.g., unexplained constitutional or heritable disorder or syndrome);
81425
sequence analysis
Genome (e.g., unexplained constitutional or heritable disorder or syndrome);
81426 sequence analysis, each comparator genome (e.g., parents, siblings) (List separately
in addition to code for primary procedure)
Genome (e.g., unexplained constitutional or heritable disorder or syndrome); re-
81427 evaluation of previously obtained genome sequence (e.g., updated knowledge or
unrelated condition/syndrome)
Hearing loss (e.g., nonsyndromic hearing loss, Usher syndrome, Pendred syndrome);
genomic sequence analysis panel, must include sequencing of at least 60 genes,
81430
including C DH23, C LRN1, GJB2, GPR98, MTRNR1, MYO7A, MYO15A, PC DH15, OTOF,
SLC 26A4, TMC 1, TMPRSS3, USH1C , USH1G, USH2A, and WFS1
Hearing loss (e.g., nonsyndromic hearing loss, Usher syndrome, Pendred syndrome);
81431 duplication/deletion analysis panel, must include copy number analyses for STRC and
DFNB1 deletions in GJB2 and GJB6 genes
Hereditary breast cancer-related disorders (e.g., hereditary breast cancer, hereditary
ovarian cancer, hereditary endometrial cancer); genomic sequence analysis panel,
81432
must include sequencing of at least 10 genes, always including BRC A1, BRC A2,
C DH1, MLH1, MSH2, MSH6, PALB2, PTEN, STK11, and TP53
Hereditary breast cancer-related disorders (e.g., hereditary breast cancer, hereditary
81433 ovarian cancer, hereditary endometrial cancer); duplication/deletion analysis panel,
must include analyses for BRC A1, BRC A2, MLH1, MSH2, and STK11
Hereditary retinal disorders (e.g., retinitis pigmentosa, Leber congenital amaurosis,
cone-rod dystrophy), genomic sequence analysis panel, must include sequencing of
81434
at least 15 genes, including ABC A4, C NGA1, C RB1, EYS, PDE6A, PDE6B, PRPF31,
PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A
Hereditary colon cancer disorders (e.g., Lynch syndrome, PTEN hamartoma
syndrome, C owden syndrome, familial adenomatosis polyposis); genomic sequence
81435
analysis panel, must include sequencing of at least 10 genes, including APC , BMPR1A,
C DH1, MLH1, MSH2, MSH6, MUTYH, PTEN, SMAD4, and STK11
Hereditary colon cancer disorders (e.g., Lynch syndrome, PTEN hamartoma
syndrome, C owden syndrome, familial adenomatosis polyposis); duplication/deletion
81436
analysis panel, must include analysis of at least 5 genes, including MLH1, MSH2,
EPC AM, SMAD4, and STK11
Hereditary neuroendocrine tumor disorders (e.g., medullary thyroid carcinoma,
parathyroid carcinoma, malignant pheochromocytoma or paraganglioma); genomic
81437
sequence analysis panel, must include sequencing of at least 6 genes, including MAX,
SDHB, SDHC , SDHD, TMEM127, and VHL
Hereditary neuroendocrine tumor disorders (e.g., medullary thyroid carcinoma,
parathyroid carcinoma, malignant pheochromocytoma or paraganglioma);
81438
duplication/deletion analysis panel, must include analyses for SDHB, SDHC , SDHD,
and VHL
Hereditary cardiomyopathy (e.g., hypertrophic cardiomyopathy, dilated
cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy), genomic
81439
sequence analysis panel, must include sequencing of at least 5 cardiomyopathy-
related genes (e.g., DSG2, MYBPC 3, MYH7, PKP2, TTN)
Mole cular Pathology/Molecular Diagnostics/Genetic Testing Page 14 of 23
Unite dHealthcare Medicare Advantage Policy Guideline Approve d 03/13/2019
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