Download Genetic Testing

JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
ACTION:
☐ New Policy:
☒ Revising Policy Number: CMS07.03
☐ Superseding Policy Number:
☐ Archiving Policy Number:
☐ Retiring Policy Number:
Policy Number
CMS07.03
Page 1 of 15
Effective Date: 08/26/2003
Review Dates: 03/15/2004, 10/22/2004,
10/21/2005, 10/19/2006, 01/07/2008,
01/05/2009, 01/07/2011, 06/07/2013,
06/05/2015
Johns Hopkins HealthCare (JHHC) provides a full spectrum of health care products and services for
Employer Health Programs, Priority Partners, and US Family Health Plan. Each line of business
possesses its own unique contract and guidelines which, for benefit and payment purposes, should
be consulted to know what benefits are available for reimbursement. Specific contract benefits,
guidelines, or policies supersede the information outlined in this policy.
POLICY:
For US Family Health Plan see TRICARE Policy Manual 6010.57-M, February 1, 2008, Diagnostic
Genetic Testing and Counseling: Chapter 6, Section 3.1.
I.
All genetic testing, with the exception of routine karyotype and Fragile X, requires prior
authorization whether performed in an inpatient or outpatient setting.
II.
All genetic tests must be ordered by a licensed physician, nurse practitioner or physician
assistant who will ensure that the medical necessity criteria below are met.
III.
Johns Hopkins HealthCare (JHHC) considers genetic testing to establish a molecular diagnosis
of an inheritable disease medically necessary when ALL of the following are met:
A. After complete history, physical examination, family history and pedigree analysis, as
well as laboratory, imaging or other diagnostic testing as indicated, a specific medical
differential diagnosis is established; AND
B. A specific genetic test is requested; AND
C. The member displays clinical features, or is at direct risk of inheriting the mutation in
question (pre-symptomatic); AND
D. The result of the test will directly impact the current specific medical treatment being
delivered to the member; AND
E. The individual has not had the genetic testing done previously; AND
F. The test requested has a Hayes Rating of A or B.
IV. All genetic tests with a Hayes Rating of D will be considered investigational.
V.
Genetic Testing of Family Members
A. Genetic testing of JHHC members is excluded from coverage under JHHC’s benefit plans
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
Policy Number
CMS07.03
Page 2 of 15
if the testing is performed primarily for the medical management of other family members
who are not covered under a JHHC benefit plan.
B. JHHC considers genetic testing for heritable disorders of family members who are not
covered under JHHC benefit plans medically necessary when ALL of the following
conditions are met:
1. The information is needed to adequately assess risk in the JHHC member; AND
2. The information will directly impact the current specific medical treatment being
delivered to the JHHC member; AND
3. The non-JHHC member's benefit plan, if any, will not cover the test (a copy of the
denial letter from the non-JHHC member's benefit plan must be provided).
VI. Genetic Testing for Reproductive Planning and Prenatal Diagnosis
A. For Non-Invasive Prenatal Testing for Fetal Aneuploidy (NIPT) see policy CMS 13.06
B. Cystic Fibrosis (CF) Carrier Testing is considered medically necessary when EITHER of
the following criteria are met:
1. The member is the reproductive partner of a person known to be a CF carrier; OR
2. The couple is planning a pregnancy or seeking prenatal care; AND EITHER
a. The testing is for a first pregnancy; OR
b. The provider has affirmatively documented that the testing was not performed
during previous pregnancies.
C. Spinal Muscular Atrophy (SMA) Carrier Testing is considered medically necessary when
ALL of the following criteria are met:
1. The diagnosis of persons with hypotonia and muscle weakness who are suspected of
having spinal muscular atrophy; OR
2. The identification of SMN1 deletion carriers in the families of persons with SMA
(subject to limitations in Section V above); OR
3. The prenatal diagnosis of SMA in the pregnancy of two known carriers. For
preimplantation genetic testing of embryos, criteria in Section VI.(F) must be met.
D. Ashkenazi Jewish Panel Testing is considered medically necessary when ALL of the
following criteria are met:
1. The testing is for the first pregnancy; OR
2. The provider has affirmatively documented that the testing was not performed during
previous pregnancies; AND
3. The testing is limited to the following conditions:
a. Tay Sachs disease
b. Canavan disease
c. Cystic fibrosis
d. Familial dysautonomia
e. Bloom syndrome
f. Fanconi anemia
g. Niemann-Pick disease
h. Gaucher disease
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
Policy Number
CMS07.03
Page 3 of 15
i. Mucolipidosis
The testing of the male partner is indicated if the female partner tests positive for any
of the above conditions.
E. Universal Carrier Screening Testing
1. Unless specific benefits apply, JHHC considers all Universal Carrier Screening tests,
including but not limited to Counsyl and HereditT Universal, investigational, as they
do not meet Technology Evaluation Criteria #2-5.
F. Genetic Testing of Pre-implantation Embryos (Pre-implantation Genetic Diagnosis
(PGD))
1. When benefits for advanced reproductive technologies (ART), including but not
limited to in-vitro fertilization (IVF), are available, JHHC considers pre-implantation
genetic diagnosis medically necessary when testing is ordered for a single,
recognized genetic disorder with a known inheritance pattern and ONE of the
following criterion is met:
a. Both partners (or member and donor) are known carriers of a single autosomal
recessive disorder; OR
b. One partner (or donor) is a known carrier of a single gene autosomal recessive
disorder; AND
c. The partners (or member and donor) have one offspring that has been diagnosed
with that recessive disorder; OR
d. One partner (or donor) is a known carrier of a single gene autosomal dominant
disorder, OR
e. One partner (or donor) is a known carrier of a single X-linked disorder; OR
f. One partner (or donor) has a known balanced or unbalanced translocation.
G. Genetic Testing of a Fetus Prior to In Utero Surgery
1. JHHC considers genetic testing of a fetus prior to proposed in-utero surgery
medically necessary when ALL of the following criteria are met:
a. The proposed fetal surgery is for ANY of the following indications:
i. Ablation of anastomotic vessels in acardiac twins;
ii. Insertion of pleuro-amniotic shunt for fetal pleural effusion;
iii. Laser ablation of anastomotic vessels in early, severe twin-twin transfusion
syndrome;
iv. Removal of sacrococcygeal teratoma;
v. Repair of myelomeningocele;
vi. Resection of malformed pulmonary tissue, or placement of a thoracoamniotic shunt as a treatment of either of the following:
• Congenital cystic adenomatoid malformation; OR
• Extralobar pulmonary sequestration;
vii. Twin reversed arterial perfusion (TRAP);
viii. Vesico-amniotic shunting as a treatment of urinary tract obstruction.
ix. Serial amnioreduction for twin-to-twin transfusion syndrome when the
4.
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
x.
Policy Number
CMS07.03
Page 4 of 15
following criteria are met:
• Women after 26 weeks of gestation; and
• Evidence of abnormal blood flow documented by Doppler studies in
one or both fetuses; and
• Evidence of polyhydramnios in the recipient fetus; and
• Donor fetus is oligohydramniotic. AND
ALL criteria in Section III above are met.
THIS POLICY REPLACES:
CMS07.02 Genetic Counseling
CMS07.03 Genetic Testing for Colon Cancer
BACKGROUND:
With the advancement of technology, the medical field has seen a parallel in the advancement and
utilization of genetic testing. Genetic testing is a type of medical test that allows medical
professionals to detect changes in an individual’s DNA. These changes can be detected in
chromosomes, genes, and/or proteins. Genetic testing and next generation sequencing have a
profound range of benefits. Such benefits may include:
•
•
•
•
•
Diagnose disease and assess severity
Associate changes in DNA with an already diagnosed disease
Aid in clinical decision-making/personalized medicine
Detect disease prevalence/risk
Screen for abnormalities in children
Single nucleotide polymorphisms (SNP’s) can serve as biomarkers for many different diseases.
Understanding and identifying changes in a patient’s genome through genetic testing or nextgeneration sequencing can aid in clinical decision-making and prove to be cost-effective. The
administration of drugs to a patient as a result of genetic testing can also reduce risk/side effects
while maximizing benefits in the patient. Interpretation of genetic testing results transcends many
disciplines within medicine. Laboratory scientists, pathologists, genetic counselors, physicians, and
nurses all collaborate to ensure accurate interpretation of results and to discuss treatment options for
patients.
CODING INFORMATION:
CPT Copyright 2015 American Medical Association. All rights reserved. CPT is a registered
trademark of the American Medical Association.
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
Policy Number
CMS07.03
Page 5 of 15
Note: The following CPT/HCPCS codes are included below for informational
purposes. Inclusion or exclusion of a CPT/HCPCS code(s) below does not signify or imply
member coverage or provider reimbursement. The member's specific benefit plan determines
coverage and referral requirements. All inpatient admissions require pre-authorization.
This list of CPT/HCPCS codes is not all inclusive:
PRE-AUTHORIZATION REQUIRED
Compliance with the provision in this policy may be monitored and addressed through
post-payment data analysis and/or medical review audits
Employer Health
Priority Partners (PPMCO) US Family Health Plan (USFHP),
Programs (EHP) **See
refer to COMAR guidelines TRICARE Medical Policy
Specific Summary Plan
and PPMCO SPD then
supersedes JHHC Medical Policy. If
Description (SPD)
apply policy criteria
there is no Policy in TRICARE,
apply the Medical Policy Criteria
CPT ®
CODES
81161
81200
81201
81202
81203
81205
81206
81207
81208
81209
81220
81221
DESCRIPTION
DMD (dystrophin) (eg, Duchenne/Becker muscular dystrophy) deletion analysis and
duplication analysis, if performed
ASPA (aspartoacylase) (eg,Canavan disease) gene analysis, common variants
APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP],
attenuated FAP) gene analysis; full gene sequence
APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP],
attenuated FAP) gene analysis; known familial variants
APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP],
attenuated FAP) gene analysis; duplication/deletion variants
BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, Maple
syrup urine disease) gene analysis, common variants (eg, R183P, G2785, E422X)
BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; major
breakpoint, qualitative or quantitative
BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; minor
breakpoint, qualitative or quantitative
BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; other
breakpoint, qualitative or quantitative
BLM (Bloom syndrome, RecQ helicase-like) (eg, Bloom syndrome) gene analysis,
2281del6ins7 variant
CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene
analysis; common variants (eg, ACMG/ACOG guidelines)
CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene
analysis; known familial variants
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
81222
81223
81224
81225
81226
81227
81228
81229
81235
81240
81241
81242
81243
81244
81245
81246
81250
81251
81252
Policy Number
CMS07.03
Page 6 of 15
CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene
analysis; duplication/deletion variants
CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene
analysis; full gene sequence
CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene
analysis; intron 8 poly-T analysis (eg, male infertility)
CYP2C19 (cytochrome P450, family 2, subfamily C, polypeptide 19) (eg, drug
metabolism), gene analysis, common variants (eg, *2, *3, *4, *8, *17)
CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug
metabolism), gene analysis, common variants (eg, *2, *3, *4, *5, *6, *9, *10, *17, *19,
*29, *35, *41, *1XN, *2XN, *4XN)
CYP2C9 (cytochrome P450, family 2, subfamily C, polypeptide 9) (eg, drug
metabolism), gene analysis, common variants (eg, *2, *3, *5, *6)
Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of
genomic regions for copy number variants (eg, bacterial artificial chromosome [BAC] or
oligo-based comparative genomic hybridization [CGH] microarray analysis)
Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of
genomic regions for copy number and single nucleotide polymorphism (SNP) variants
for chromosomal abnormalities
EGFR (epidermal growth factor receptor) (eg, non-small cell lung cancer) gene analysis,
common variants (eg, exon 19 LREA deletion, L858R, T790M, G719A, G719S, L861Q)
F2 (prothrombin, coagulation factor II) (eg, hereditary hypercoagulability) gene analysis,
20210G>A variant
F5 (coagulation Factor V) (eg, hereditary hypercoagulability gene analysis, Leiden
variant
FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia type C) gene
analysis, common variant (eg, IVS4+4A>T)
FMR1 (Fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis;
evaluation to detect abnormal (eg, expanded) alleles
FMR1 (Fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis;
characterization of alleles (eg, expanded size and methylation status)
FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis;
internal tandem duplication (ITD) variants (ie, exons 14, 15)
FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis;
tyrosine kinase domain (TKD) variants (eg, D835, I836)
G6PC (glucose-6-phosphatase, catalytic subunit) (eg, Glycogen storage disease, Type 1a,
von Gierke disease) gene analysis, common variants (eg, R83C, Q347X)
GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg,
N370S, 84GG, L444P, IVS2+1G>A)
GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing
loss) gene analysis; full gene sequence
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
81253
81254
81255
81256
81257
81260
81261
81262
81263
81264
81265
81266
81270
81275
Policy Number
CMS07.03
Page 7 of 15
GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing
loss) gene analysis; known familial variants
GJB6 (gap junction protein, beta 6, 30kDa, connexin 30) (eg, nonsyndromic hearing
loss) gene analysis, common variants (eg, 309kb [del(GJB6-D13S1830)] and 232kb
[del(GJB6-D13S1854)])
HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis,
common variants (eg, 1278insTATC, 1421+1G>C, G269S)
HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common
variants (eg, C282Y, H63D)
HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart
hydrops fetalis syndrome, HbH disease), gene analysis, for common deletions or variant
(eg, Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, and
Constant Spring)
IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complexassociated protein) (eg, familial dysautonomia) gene analysis, common variants (eg,
2507+6T>C, R696P)
IGH@ (Immunoglobulin heavy chain locus) (eg, leukemias and lymphomas, B-cell),
gene rearrangement analysis to detect abnormal clonal population(s); amplified
methodology (eg, polymerase chain reaction)
IGH@ (Immunoglobulin heavy chain locus) (eg, leukemias and lymphomas, B-cell),
gene rearrangement analysis to detect abnormal clonal population(s); direct probe
methodology (eg, Southern blot)
IGH@ (Immunoglobulin heavy chain locus) (eg, leukemia and lymphoma, B-cell),
variable region somatic mutation analysis
IGK@ (Immunoglobulin kappa light chain locus) (eg, leukemia and lymphoma, B-cell),
gene rearrangement analysis, evaluation to detect abnormal clonal population(s)
Comparative analysis using Short Tandem Repeat (STR) markers; patient and
comparative specimen (eg, pre-transplant recipient and donor germline testing, posttransplant non-hematopoietic recipient germline [eg, buccal swab or other germline
tissue sample] and donor testing, twin zygosity testing, or maternal cell contamination of
fetal cells)
Comparative analysis using Short Tandem Repeat (STR) markers; each additional
specimen (eg, additional cord blood donor, additional fetal samples from different
cultures, or additional zygosity in multiple birth pregnancies) (List separately in addition
to code for primary procedure)
JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) gene analysis, p.Val617Phe
(V617F) variant
KRAS (v-Ki-ras2 Kirsten rat sarcoma viral oncogene) (eg, carcinoma) gene analysis,
variants in codons 12 and 13
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
81280
81281
81282
81288
81290
81291
81292
81293
81294
81295
81296
81297
81298
81299
81300
81301
81302
Policy Number
CMS07.03
Page 8 of 15
Long QT syndrome gene analysis (eg, KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2,
KCNJ2, CACNA1C, CAV3, SCN4B, AKAP, ANTA1 and AKN2); full sequence
analysis
Long QT syndrome gene analysis (eg, KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2,
KCNJ2, CACNA1C, CAV3, SCN4B, AKAP, ANTA1 and AKN2); known familial
sequence variant
Long QT syndrome gene analysis (eg, KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2,
KCNJ2, CACNA1C, CAV3, SCN4B, AKAP, ANTA1 and AKN2); duplication/deletion
variants
MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary nonpolyposis colorectal cancer, Lynch syndrome) gene analysis; promoter methylation
analysis
MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants
(eg, IVS3-2A>G, del6.4kb)
MTHFR (5,10-methylenetetrahydrofolate reductase) (eg, hereditary hypercoagulability)
gene analysis, common variants (eg, 677T, 1298C)
MLH1 (mutL homomlog 1, colon cancer, nonpolyposis type 2) (eg, hereditary nonpolyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis
MLH1 (mutL homomlog 1, colon cancer, nonpolyposis type 2) (eg, hereditary nonpolyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants
MLH1 (mutL homomlog 1, colon cancer, nonpolyposis type 2) (eg, hereditary nonpolyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion
variants
MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary nonpolyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis
MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary nonpolyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants
MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary nonpolyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion
variants
MSH6 (mutS homolog 6 [E. coli] (eg, hereditary nonpolyposis colorectal cancer, Lynch
syndrome) gene analysis; full sequence analysis
MSH6 (mutS homolog 6 [E. coli] (eg, hereditary nonpolyposis colorectal cancer, Lynch
syndrome) gene analysis; known familial variants
MSH6 (mutS homolog 6 [E. coli] (eg, hereditary nonpolyposis colorectal cancer, Lynch
syndrome) gene analysis; duplication/deletion variants
Microsatellite instability analysis (eg, hereditary nonpolyposis colorectal cancer, Lynch
syndrome) of markers for mismatch repair deficiency (eg, BAT25, BAT26), includes
comparison of neoplastic and normal tissue, if performed
MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; full
sequence analysis
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
81303
81304
81310
81313
81315
81316
81317
81318
81319
81321
81322
81323
81324
81325
81326
81330
81331
81332
Policy Number
CMS07.03
Page 9 of 15
MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; known
familial variant
MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis;
duplication/deletion variants
NPM1 (nucleophosmin) (eg, acute myeloid leukemia) gene analysis, exon 12 variants
PCA3/KLK3 (prostate cancer antigen 3 [non-protein coding]/kallikrein-related peptidase
3 [prostate specific antigen]) ratio (eg, prostate cancer)
PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (eg,
promyelocytic leukemia) translocation analysis; common breakpoints (eg, intron 3 and
intron 6), qualitative or quantitative
PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (eg,
promyelocytic leukemia) translocation analysis; single breakpoint (eg, intron 3, intron 6
or exon 6), qualitative or quantitative
PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyoisus
colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis
PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis
colorectal cancer, Lynch syndrome) gene analysis; known familial variants
PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis
colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants
PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma
tumor syndrome) gene analysis; full sequence analysis
PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma
tumor syndrome) gene analysis; known familial variant
PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma
tumor syndrome) gene analysis; duplication/deletion variant
PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy
with liability to pressure palsies) gene analysis; duplication/deletion analysis
PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy
with liability to pressure palsies) gene analysis; full sequence analysis
PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy
with liability to pressure palsies) gene analysis; known familial variant
SMPD1 (sphingomyelin phosphodiesterase 1, acid lysosomal) (eg, Niemann-Pick
disease, Type A) gene analysis, common variants (eg, R496L, L302P, fsP330)
SNRPN/UBE3A (small nuclear ribonucleoprotein polypeptide N and ubiquitin protein
ligase E3A) (eg, Prader-Willi syndrome and/or Angelman syndrome), methylation
analysis
SERPINA1 (serpin peptidase inhibitor, clade A, alpha-1 antiproteinase, antitrypsin,
member 1) (eg, alpha-1-antitrypsis deficiency), gene analysis, common variants (eg, *S
and *Z)
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
81340
81341
81342
81350
81355
81400
81401
81402
81403
81404
81405
81406
81407
81408
Policy Number
CMS07.03
Page 10 of 15
TRB@ (T cell antigen receptor, beta) (eg, leukemia and lymphoma), gene rearrangement
analysis to detect abnormal clonal population(s); using amplification methodology (eg,
polymerase chain reaction)
TRB@ (T cell antigen receptor, beta) (eg, leukemia and lymphoma), gene rearrangement
analysis to detect abnormal clonal population(s); using direct probe methodology (eg,
Southern blot)
TRG@ (T cell antigen receptor, gamma) (eg, leukemia and lymphoma), gene
rearrangement analysis, evaluation to detect abnormal clonal population(s)
UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (eg, irinotecan
metabolism), gene analysis, common variants (eg, *28, *36, *37)
VKORC1 (vitamin K epoxide reductase complex, subunit 1) (eg, warfarin metabolism),
gene analysis, common variants (eg, -1639/3673)
Molecular pathology procedure, Level 1 (eg, identification of single germline variant
[eg,SNP] by techniques such as restriction enzyme digestion or melt curve analysis)
Molecular pathology procedure, Level 2 (eg, 2-10 SNP's, 1 methylated variant, or 1
somatic variant [typically using nonsequencing target variant analysis], or detection of a
dynamic mutation disorder/triplet repeat)
Molecular pathology procedure, Level 3 (eg, >10 SNPs, 2-10 methylated variants, or 210 somatic variants [typically using non-sequencing target variant analysis],
immunoglobulin and T-cell receptor gene rearrangements, duplication/deletion variants
of 1 exon loss of heterozygosity [LOH], uniparental disomy [UPD])
Molecular pathology procedure, Level 4 (eg, analysis of single exon by DNA sequence
analysis, analysis of >10 amplicons using multiplex PCR in 2 or more independent
reactions, mutation scanning or duplication/deletion variants of 2-5 exons)
Molecular pathology procedure, Level 5 (eg, analysis of 2-5 exons by DNA sequence
analysis, mutation scanning or duplication/deletion variants of 6-10 exons, or
characterization of a dynamic mutation disorder/triplet repeat by Southern blot analysis)
Molecular pathology procedure, Level 6 (eg, analysis of 6-10 exons by DNA sequence
analysis, mutation scanning or duplication/deletion variants of 11-25 exons, regionally
targeted cytogenomic array analysis
Molecular pathology procedure, Level 7 (eg, analysis of 11-25 exons by DNA sequence
analysis, mutation scanning or duplication/deletion variants of 26-50 exons, cytogenomic
array analysis for neoplasia)
Molecular pathology procedure, Level 8 (eg, analysis of 26-50 exons by DNA sequence
analysis, mutation scannion or duplication/deletion variants of >50 exons, sequence
analysis of multiple genes on one platform)
Molecular pathology procedure, Level 9 (eg, analysis of >50 exons in a single gene by
DNA sequence analysis)
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
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81411
81415
81416
81417
81420
81425
81426
81427
81430
81431
81435
81436
Policy Number
CMS07.03
Page 11 of 15
Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler
Danlos syndrome type IV, arterial tortuosity syndrome); genomic sequence analysis
panel, must include sequencing of at least 9 genes, including FBN1, TGFBR1, TGFBR2,
COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK
Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler
Danlos syndrome type IV, arterial tortuosity syndrome); duplication/deletion analysis
panel, must include analyses for TGFBR1, TGFBR2, MYH11, and COL3A1
Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence
analysis
Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence
analysis, each comparator exome (eg, parents, siblings) (List separately in addition to
code for primary procedure)
Exome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation
of previously obtained exome sequence (eg, updated knowledge or unrelated
condition/syndrome)
Fetal chromosomal aneuploidy (eg, trisomy 21, monosomy X) genomic sequence
analysis panel, circulating cell-free fetal DNA in maternal blood, must include analysis
of chromosomes 13, 18, and 21
Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence
analysis
Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence
analysis, each comparator genome (eg, parents, siblings) (List separately in addition to
code for primary procedure)
Genome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation
of previously obtained genome sequence (eg, updated knowledge or unrelated
condition/syndrome)
Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome);
genomic sequence analysis panel, must include sequencing of at least 60 genes, including
CDH23, CLRN1, GJB2, GPR98, MTRNR1, MYO7A, MYO15A, PCDH15, OTOF,
SLC26A4, TMC1, TMPRSS3, USH1C, USH1G, USH2A, and WFS1
Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome);
duplication/deletion analysis panel, must include copy number analyses for STRC and
DFNB1 deletions in GJB2 and GJB6 genes
Hereditary colon cancer syndromes (eg, Lynch syndrome, familial adenomatosis
polyposis); genomic sequence analysis panel, must include analysis of at least 7 genes,
including APC, CHEK2, MLH1, MSH2, MSH6, MUTYH, and PMS2
Hereditary colon cancer syndromes (eg, Lynch syndrome, familial adenomatosis
polyposis); duplication/deletion gene analysis panel, must include analysis of at least 8
genes, including APC, MLH1, MSH2, MSH6, PMS2, EPCAM, CHEK2, and MUTYH
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
81440
81445
81450
81455
81460
81465
81470
81471
81479
81519
82160
83006
Policy Number
CMS07.03
Page 12 of 15
Nuclear encoded mitochondrial genes (eg, neurologic or myopathic phenotypes),
genomic sequence panel, must include analysis of at least 100 genes, including BCS1L,
C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B,
SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, and TYMP
Targeted genomic sequence analysis panel, solid organ neoplasm, DNA analysis, 5-50
genes (eg, ALK, BRAF, CDKN2A, EGFR, ERBB2, KIT, KRAS, NRAS, MET,
PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET), interrogation for sequence variants
and copy number variants or rearrangements, if performed
Targeted genomic sequence analysis panel, hematolymphoid neoplasm or disorder, DNA
and RNA analysis when performed, 5-50 genes (eg, BRAF, CEBPA, DNMT3A, EZH2,
FLT3, IDH1, IDH2, JAK2, KRAS, KIT, MLL, NRAS, NPM1, NOTCH1), interrogation
for sequence variants, and copy number variants or rearrangements, or isoform
expression or mRNA expression levels, if performed
Targeted genomic sequence analysis panel, solid organ or hematolymphoid neoplasm,
DNA and RNA analysis when performed, 51 or greater genes (eg, ALK, BRAF,
CDKN2A, CEBPA, DNMT3A, EGFR, ERBB2, EZH2, FLT3, IDH1, IDH2, JAK2, KIT,
KRAS, MLL, NPM1, NRAS, MET, NOTCH1, PDGFRA, PDGFRB, PGR, PIK3CA,
PTEN, RET), interrogation for sequence variants and copy number variants or
rearrangements, if performed
Whole mitochondrial genome (eg, Leigh syndrome, mitochondrial encephalomyopathy,
lactic acidosis, and stroke-like episodes [MELAS], myoclonic epilepsy with ragged-red
fibers [MERFF], neuropathy, ataxia, and retinitis pigmentosa [NARP], Leber hereditary
optic neuropathy [LHON]), genomic sequence, must include sequence analysis of entire
mitochondrial genome with heteroplasmy detection
Whole mitochondrial genome large deletion analysis panel (eg, Kearns-Sayre syndrome,
chronic progressive external ophthalmoplegia), including heteroplasmy detection, if
performed
X-linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID);
genomic sequence analysis panel, must include sequencing of at least 60 genes, including
ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2,
MED12, MID1, OCRL, RPS6KA3, and SLC16A2
X-linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID);
duplication/deletion gene analysis, must include analysis of at least 60 genes, including
ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2,
MED12, MID1, OCRL, RPS6KA3, and SLC16A2
Unlisted molecular pathology procedure
Oncology (breast), mRNA, gene expression profiling by real-time RT-PCR of 21 genes,
utilizing formalin-fixed paraffin embedded tissue, algorithm reported as recurrence score
Androsterone
Growth stimulation expressed gene 2 (ST2, Interleukin 1 receptor like-1)
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
88245
88248
88249
88261
88262
88263
88264
88267
88269
88271
88272
88273
88274
88275
88323
HCPCS
CODE
S3840
S3841
S3842
S3844
S3845
S3846
S3849
S3850
S3852
S3853
S3854
S3861
S3865
Policy Number
CMS07.03
Page 13 of 15
Chromosome analysis for breakage syndromes; baseline Sister Chromatid Exchange
(SCE) 20-25 cells
Chromosome analysis for breakage syndromes; baseline breakage, score 50-100 cells,
count 20 cells, 2 karyotypes (eg, for ataxia telangiectasia, Fanconi anemia, fragile X)
Chromosome analysis for breakage syndromes; score 100 cells, clastogen stress (eg,
diepoxybutane, mitomycin C, ionizing radiation, UV radiation)
Chromosome analysis; count 5 cells, 1 karyotype, with banding
Chromosome analysis; count 15-20 cells, 2 karyotypes, with banding
Chromosome analysis; count 45 cells for mosaicism, 2 karyotypes, with banding
Chromosome analysis; analyze 20-25 cells
Chromosome analysis, amniotic fluid or chorionic villus, count 15 cells, 1 karyotype,
with banding
Chromosome analysis, in situ for amniotic fluid cells, count cells from 6-12 colonies, 1
karyotype, with banding
Molecular cytogenetics; DNA probe, each (eg, FISH)
Molecular cytogenetics; chromosomal in situ hybridization, analyze 3-5 cells (eg, for
derivatives and markers)
Molecular cytogenetics; chromosomal in situ hybridization, analyze 10-30 cells (eg, for
microdeletions)
Molecular cytogenetics; interphase in situ hybridization, analyze 25-99 cells
Molecular cytogenetics; interphase in situ hybridization, analyze 100-300 cells
Consultation and report on referred material requiring preparation of slides
DESCRIPTION
DNA analysis for germline mutations of the RET proto-oncogene for susceptibility to
multiple endocrine neoplasia type 2
Genetic testing for retinoblastoma
Genetic testing for Von Hippel-Lindau disease
DNA analysis of the connexin 26 gene (GJB2) for susceptibility to congenital, profound
deafness
Genetic testing for alpha-thalassemia
Genetic testing for hemoglobin E beta-thalassemia
Genetic testing for Niemann-Pick disease
Genetic testing for sickle cell anemia
DNA analysis for APOE epsilon 4 allele for susceptibility to Alzheimer’s disease
Genetic testing for myotonic muscular dystrophy
Gene expression profiling panel for use in the management of breast cancer treatment
Genetic testing, sodium channel, voltage-gated, type V, alpha subunit (SCN5A) and
variants for suspected Brugada syndrome
Comprehensive gene sequence analysis for hypertrophic cardiomyopathy
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
S3866
Policy Number
CMS07.03
Page 14 of 15
Genetic analysis for a specific gene mutation for hypertrophic cardiomyopathy (HCM) in
an individual with a known HCM mutation in the family
REFERENCES STATEMENT:
Analyses of the scientific and clinical references cited below were conducted and utilized by the
Johns Hopkins HealthCare (JHHC) Medical Policy Team during the development and
implementation of this medical policy. Per NCQA standards, the Medical Policy Team will
continue to monitor and review any newly published clinical evidence and adjust the references
below accordingly if deemed necessary.
CLINICAL:
1.
2.
3.
4.
5.
6.
Grada, A., Weinbrecht, K. (2013). Next-generation sequencing: Methodology and
application. Journal of Investigative Dermatology, 133, e11.
Robson, M., Storm, C., Weitzel, J., et al. (2010). American Society of Clinical
Oncology Policy Statement Update: Genetic and genomic testing for cancer
susceptibility. J Clin Oncol., 28, 893-901.
Foster, M., Mulvihill, J., et al. (2009). Evaluating the utility of personal genomic
information. Genet Medicine, 11, 570-574.
Domchek, S., Friebel, T., Singer, C., et al. (2010). Association of risk-reducing
surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA,
304, 967–975.
Wall, D.P., Tonellato, P.J. (2012). The future of genomics in pathology. F1000 Med
Rep., 4, 14.
Hayes, Inc. Genetic Test Evaluation (GTE): http://www.hayesinc.com/hayes/
HEALTH PLAN:
7.
8.
Aetna Clinical Policy Bulletin, (2015, May 6). Genetic Testing Policy; Number:
0140. Retrieved from: http://www.aetna.com/cpb/medical/data/100_199/0140.html
Aetna Clinical Policy Bulletin, (2014, July 15). Fetal Surgery in Utero; Number: 0449
found at: http://www.aetna.com/cpb/medical/data/400_499/0449.html
REGULATORY:
9.
TRICARE POLICY MANUAL 6010.57-M, February 1, 2008. Chapter 6, Section
3.1. Diagnostic Genetic Testing, Authority 32 CFR 199.4(a)(1)(i). Retrieved from:
http://manuals.tricare.osd.mil/
JOHNS HOPKINS HEALTHCARE
Medical Policy: Genetic Testing
Department: Medical Management
Lines of Business: EHP, USFHP, PPMCO
10.
11.
12.
13.
14.
Policy Number
CMS07.03
Page 15 of 15
Centers for Medicare and Medicaid (CMS), PUBLIC LAW 110–233—MAY 21,
2008. Retrieved from:
http://www.cms.gov/HealthInsReformforConsume/Downloads/gina.pdf
COMAR: 2010 Individual Medicare Supplement Policies-Plans A through D, F, G, K
through N, (Revised 2010, April 28). Prohibition against Use of Genetic Information
and Requests for Genetic Testing: 31.10.06.26C. Retrieved from:
http://www.dsd.state.md.us/comar/getfile.aspx?file=31.10.06.26.htm 31. Shuren, J.,
(2010, July 22).
U.S. Food and Drug Administration (FDA). Direct-to-Consumer Genetic Testing and
the Consequences to the Public. Retrieved from: http://www.fda.gov/NewsEvents/
Testimony/ucm219925.htm.
U.S. Food and Drug Administration (FDA), (2011, July 8). Product Classification:
Test Factor V Leiden DNA Mutations Detection Systems. Medical Device 510(k)
864.7280. Retrieved from:
http://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfPCD/classification.cfm?ID=2179
National Human Genome Research Institute. National Institute of Health. (2015).
Access: www.genome.gov