TEST NAME:
|
Afirma Thyroid Fine-Needle
Aspiration (FNA) Analysis
|
Effective Date:
|
October 19, 2017
|
Coverage Guidelines:
|
The Afirma Thyroid FNA Analysis
is covered for the following indication:
• To aid in thyroid nodule diagnosis
by reducing unnecessary surgeries in patients with indeterminate thyroid
nodules.
|
|
GENE:
|
ALK
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
ALK gene testing is covered
for the following indication:
• To determine response to Tyrosine
Kinase Inhibitor (TKI) therapy in patients with adenocarcinoma of
the lung or mixed lung cancer with adenocarcinoma component of the
lung.
|
|
GENE:
|
Adenomatous Polyposis
Coli (APC)
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
APC gene testing is covered
for the following indications:
• Testing for APC variants in
individuals with clinical symptoms consistent with Familial Adenomatous Polyposis
(FAP).
• Testing
for APC variants in individuals with clinical symptoms consistent
with Attenuated Familial Adenomatous Polyposis (AFAP).
• Testing for APC variants in
individuals with clinical symptoms consistent with Turcot’s or Gardner’s syndromes.
• Testing individuals with an
APC-associated polyposis syndrome for the purpose of identifying
a variant that may be used to screen at-risk relatives.
• For the presymptomatic testing
of at-risk relatives for a known familial variant.
|
|
GENE:
|
ATXN1
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
ATXN1 gene testing is covered
for the following indications:
• Diagnosis of Spinocerebellar
Ataxia Type 1 (SCA1) in patients with cerebellar ataxia of unknown
etiology, along with extracerebellar symptoms associated with SCA1
and/or a family history consistent with autosomal dominant inheritance.
• Diagnosis of SCA1 in symptomatic
family members of known SCA1 patients.
|
|
GENE:
|
ATXN2
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
ATXN2 gene testing is covered
for the following indications:
• Diagnosis of Spinocerebellar
Ataxia Type 2 (SCA2) in patients with cerebellar ataxia of unknown
etiology, along with extracerebellar symptoms associated with SCA2
and/or a family history consistent with autosomal dominant inheritance.
• Diagnosis of SCA2 in symptomatic
family members of known SCA2 patients.
|
|
GENE:
|
ATXN3
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
ATXN3 gene testing is covered
for the following indications:
• Diagnosis of Spinocerebellar
Ataxia Type 3 (SCA3) in patients with cerebellar ataxia of unknown
etiology, along with extracerebellar symptoms associated with SCA3
and/or a family history consistent with autosomal dominant inheritance.
• Diagnosis of SCA3 in symptomatic
family members of known SCA3 patients.
|
|
GENE:
|
ATXN7
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
ATXN7 gene testing is covered
for the following indications:
• Diagnosis of Spinocerebellar
Ataxia Type 7 (SCA7) in patients with cerebellar ataxia and visual
disturbance.
• Diagnosis
of SCA7 in symptomatic family members of known SCA7 patients.
|
|
GENE:
|
ATXN10
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
ATXN10 gene testing is covered
for the following indications:
• Diagnosis of Spinocerebellar
Ataxia Type 10 (SCA10) in ataxia patients whose ancestry is of American Indian
origin, and whose family history is consistent with autosomal dominant
inheritance.
• Diagnosis
of SCA10 in symptomatic family members of known SCA10 patients.
|
|
GENE:
|
BCR/ABL1
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
BCR/ABL1 gene testing is covered
for the following indications:
• Diagnostic assessment of individuals
with suspected Chronic Myelogenous Leukemia (CML) by quantitative
RT-PCR (RQ-PCR).
• Diagnostic assessment of individuals
with suspected CML by qualitative Reverse Transcriptase-Polymerase Chain
Reaction (RT-PCR).
• Monitoring response to TKI
therapy, such as imatinib, in individuals with CML by RQ-PCR.
• Testing for the presence of
the BCR/ABL1 p.Thr315Ile variant in CML patients to guide treatment
selection following resistance to first-line imatinib therapy.
• Testing for the presence of
BCR/ABL1 variants other than p.Thr315Ile in CML patients to guide
treatment selection following resistance to first-line imatinib
therapy.
|
|
TEST NAME:
|
Biotheranostics Breast
Cancer Index
|
Effective Date:
|
January 1, 2023
|
Coverage Guidelines:
|
The Biotheranostics Breast
Cancer Index is covered for the following indications:
• Women with diagnosed early-stage
hormone-receptor positive (HR+), lymph node-negative (LN-) breast cancer
being treated with adjuvant endocrine therapy.
• Women with diagnosed early-stage
hormone-receptor positive (HR+), lymph node positive (LN+) (1-3 nodes)
breast cancer being treated with adjuvant endocrine therapy.
|
|
GENE:
|
Bone Morphogenetic Protein
Receptor Type 1A (BMPR1A)
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
BMPR1A gene testing is covered
for the following indications:
• To clarify the diagnosis of
individuals with Juvenile Polyposis Syndrome (JPS).
• If a known SMAD4 mutation is
in the family, genetic testing should be performed in the first
six months of life due to hereditary hemorrhagic telangiectasia
risk.
|
|
GENE:
|
BRAF
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
BRAF gene testing is covered
for the following indications:
• To predict response to vemurafenib
therapy in patients with a positive cobas 4800 BRAF mutation test result.
• To predict response to trametinib
monotherapy in advanced melanoma patients with a positive BRAF p.Val600GLu
and/or p.Val600Lys test result.
• To predict response to dabrafenib
monotherapy in advanced melanoma patients with a positive BRAF p.Val600Glu
test result.
• To predict
response to trametinib and dabrafenib combination therapy in advanced
melanoma patients with a positive BRAF p.Val600Glu and/or p.Val600Lys
test result.
• For individuals
with indeterminate thyroid Fine-Needle Aspiration (FNA) biopsy cytology
for diagnosis of papillary thyroid carcinoma.
|
|
GENE:
|
BReast CAncer Gene 1
(BRCA1)/BReast CAncer Gene 2 (BRCA2)
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
BRCA1/BRCA2 gene testing is
covered in accordance with the most current National Comprehensive
Care Network (NCCN) Guidelines for Breast Cancer.
|
|
GENE:
|
Calcium Voltage-Gated
Channel Subunit Alpha1 A (CACNA1A)
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
CACNA1A gene testing is covered
for the following indications:
• Diagnosis of Spinocerebellar
Ataxia Type 6 (SCA6) in patients with cerebellar ataxia with dysarthria
and/or nystagmus.
• Diagnosis of SCA6 in symptomatic
family members of known SCA6 patients.
|
|
GENE:
|
CALM1, CASQ2, RYR2, and/or
TRDN
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
CALM1, CASQ2, RYR2, and/or
TRDN gene testing is covered for the following indication:
• To confirm a diagnosis of Catecholaminergic
Polymorphic Ventricular Tachycardia (CPVT) in patients with clinically
diagnosed or suspected CPVT.
|
|
GENE:
|
CDH1
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
CDH1 gene testing is covered
for the following indication:
• For large rearrangements in
the CDH1 gene for the treatment of Hereditary Diffuse Gastric Cancer
(HDGC).
|
|
GENE:
|
CEBPA
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
CEBPA gene testing is covered
for the following indication:
• To guide the treatment decisions
for individuals with Acute Myeloid Leukemia (AML).
|
|
GENE:
|
CFTR
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
CFTR gene testing is covered
for the following indications:
• Confirmation of diagnosis in
individuals showing clinical symptoms of CF or having a high sweat
chloride level.
• Identification of newborns
who are affected with CF.
• Identification of individuals
with the p.Gly551Asp variant who will respond to treatment with
ivacaftor.
• Male infertility
testing and treatment.
• Preconception and prenatal
carrier screening in accordance with the most current ACOG guidelines.
|
|
Note: Effective
December 27, 2021, CFTR gene testing as a preconception and prenatal
carrier screening is no longer covered under this demonstration
and is covered as a TRICARE Basic benefit. See TPM,
Chapter 6, Section 3.2. All other coverage
guidelines for CFTR gene testing noted above remain under the LDT demonstration.
|
|
GENE:
|
Chimerism Analysis
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
Chimerism analysis is covered
for the following indication:
• For the management and treatment
of stem cell transplant patients.
|
|
GENE:
|
Chromosome 22q11.2
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
Chromosome 22q11.2 gene testing
is covered for the following indication:
• Confirmation of diagnosis in
an individual suspected of chromosome 22q11.2 deletion syndrome
based on clinical findings.
|
|
GENE:
|
COL1A1/COL1A2
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
COL1A1/COL1A2 gene testing
is covered for the following indication:
• For sequence variants in the
COL1A1/COL1A2 genes for the diagnosis of Osteogenesis Imperfecta
(OI) when clinical and radiological examination and family history
provide inadequate information for diagnosis of OI.
|
|
GENE:
|
COL3A1
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
COL3A1 gene testing is covered
for the following indication:
• To confirm or establish a diagnosis
of Ehlers-Danlos Syndrome Type 4 (EDS IV), also known as vascular
EDS, in patients with clinical symptoms or features of EDS IV.
|
|
GENE:
|
CYP2C9
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
CYP2C9 gene testing is covered
for the following indication:
• For the initiation and management
of warfarin treatment.
|
|
GENE:
|
CYP2C19
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
CYP2C19 gene testing is covered
for the following indication:
• To manage dosing of clopidogrel.
|
|
GENE:
|
Cytogenomic Constitutional
Microarray Analysis
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
Cytogenomic Constitutional
Microarray Analysis gene testing is covered for the following indications:
• Diagnostic evaluation of patients
suspected of having a genetic syndrome (i.e., have congenital anomalies, dysmorphic
features, Developmental Delay (DD), and/or intellectual disability).
• Diagnostic evaluation of individuals
with Autism Spectrum Disorder (ASD), including autism, Asperger syndrome,
and pervasive developmental disorder.
|
|
GENE:
|
DAZ/SRY
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
DAZ/SRY gene testing is covered
for the following indication:
• To detect submicroscopic deletions
involving the Y chromosome in the evaluation of men with infertility secondary
to azoospermia, oligozoospermia, or teratozoospermia.
|
|
TEST NAME:
|
DermTech Pigmented Lesion
Assay (PLSA)
|
Effective Date:
|
January 1, 2023
|
Coverage Guidelines:
|
The DermTech Pigmented Lesion
Assay is covered for the following indication:
• Neoplasms of uncertain behavior
of skin.
|
|
GENE:
|
Duchenne Muscular Dystrophy
(DMD)
|
Effective Date:
|
November 20, 2014
|
Coverage Guidelines:
|
DMD gene testing is covered
for the following indication:
• For diagnostic DMD testing
(deletion and duplication analysis with reflex to complete gene
sequencing) in males or females exhibiting symptoms of DMD or Becker
Muscular Dystrophy (BMD).
|
|
GENE:
|
DMPK
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
DMPK gene testing is covered
for the following indications:
• Confirmation of a diagnosis
of Myotonic Dystrophy Type 1 (DM1) or Type 2 (DM2) in symptomatic
patients.
• Diagnosis
of DM1 or DM2 in asymptomatic adults who are at an increased risk
of DM1 or DM2 through a positive family history.
|
|
GENE:
|
DSC2, DSG2, DSP, JUP,
PKP2, RYR2, TGFB3, and/or TMEM43
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
DSC2, DSG2, DSP, JUP, PKP2,
RYR2, TGFB3, and/or TMEM43 gene testing is covered for the following indications:
• For sequence variants in the
DSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3, and TMEM43 genes to confirm
a diagnosis of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
(ARVD/C) in probands.
• For a known familial sequence
variant in the DSC2, DSG2, DSP, PKP2, or TMEM43 gene for at-risk
relatives of probands with International Task Force (ITF)-confirmed
ARVD/C to confirm a diagnosis of ARVD/C in those whose symptoms
meet the ITF-diagnostic criteria.
|
|
GENE:
|
DYT1/TOR1A
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
DYT1/TOR1A gene testing is
covered for the following indications:
• For genetic testing for sequence
variants of DYT1 for patients with primary dystonia with onset <
30 years of age.
• For genetic testing for sequence
variants of DYT1 for patients with primary dystonia with onset ≥
30 years of age who have a relative who developed dystonia aged
< 30 years.
|
|
GENE:
|
EGFR
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
EGFR gene testing is covered
for the following indication:
• To help guide administration
of Epidermal Growth Factor Receptor (EGFR) TKIs in the first-line
treatment of non-small cell lung cancer.
|
|
GENE:
|
F2
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
Prothrombin (Factor II) related
thrombophilia gene testing is covered for the following indications:
• Diagnostic evaluation of individuals
with a prior Venous Thromboembolism (VTE) during pregnancy or puerperium.
• For patients with VTE with
a personal or family history of recurrent VTE (more than two in
the same person).
• For patients with their first
VTE before age 50 with no precipitating factors.
• For venous thrombosis at unusual
sites such as the cerebral, mesenteric, portal, or hepatic veins.
• For VTE associated with the
use of estrogen-containing oral contraceptives, Selective Estrogen
Receptor Modulators (SERMs), or Hormone Replacement Therapy (HRT).
• To diagnose an inherited thrombophilia
in female family members of individuals with an inherited thrombophilia
if the female family member is pregnant or considering pregnancy
or oral contraceptive use.
|
|
GENE:
|
F5
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
Factor V Leiden thrombophilia
gene testing is covered for the following indications:
• Diagnostic evaluation of individuals
with a prior VTE during pregnancy or puerperium.
• For patients with VTE with
a personal or family history of recurrent VTE (more than two in
the same person).
• For patients with their first
VTE before age 50 with no precipitating factors.
• For venous thrombosis at unusual
sites such as the cerebral, mesenteric, portal, or hepatic veins.
• For VTE associated with the
use of estrogen-containing oral contraceptives, Selective Estrogen
Receptor Modulators (SERMs), or Hormone Replacement Therapy (HRT).
• To diagnose an inherited thrombophilia
in female family members of individuals with an inherited thrombophilia
if the female family member is pregnant or considering pregnancy
or oral contraceptive use.
|
|
GENE:
|
FBN1
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
FBN1 gene testing is covered
for the following indications:
• To facilitate the diagnosis
of Marfan syndrome in patients who do not fulfill the Ghent diagnostic
criteria, but have at least one major feature of the condition.
• To facilitate the diagnosis
of Marfan syndrome in the at-risk relatives of patients carrying
known disease-causing variants.
|
|
GENE:
|
FLCN
|
Effective Date:
|
July 31, 2014
|
Coverage Guidelines:
|
FLCN gene testing is covered
for the following indication:
• To confirm a diagnosis of Birt-Hogg-Dubé
Syndrome (BHD) in patients with suspected BHD.
|
|
GENE:
|
FLT3
|
Effective Date:
|
October 7, 2013
|
Coverage Guidelines:
|
FLT3 gene testing is covered
for the following indication:
• For diagnosis and prognosis
in AML.
|
|
GENE:
|
FMR1
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
FMR1 gene testing is covered
for the following indication:
• Testing for CGG repeat length
for diagnosis of patients of either sex with mental retardation,
intellectual disability, developmental delay, or autism.
FMR1 gene testing for Fragile
X-Associated Tremor/Ataxia Syndrome is covered for the following
individuals:
• Males
and females older than age 50 years who have progressive cerebellar
ataxia and intention tremor with or without a positive family history
of FMR1-related disorders in whom other common causes of ataxia have
been excluded.
• Women with unexplained Premature
Ovarian Insufficiency (POI).
|
|
TEST NAME:
|
FoundationOne® Heme
|
Effective Date:
|
January 1, 2023
|
Coverage Guidelines:
|
The FoundationOne® Heme assay
is covered for the following indications:
• Assessment of gene alterations
in hematologic malignancies.
• Assessment of gene alterations
in sarcomas.
|
|
GENE:
|
GCK
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
GCK gene testing is covered
for the following indication:
• Diagnosis of Maturity-Onset
Diabetes of the Young Type 2 (MODY2) in patients with hyperglycemia
or non-insulin-dependent diabetes who have a family history of abnormal
glucose metabolism in at least two consecutive generations, with
the patient or ≥ 1 family member(s) diagnosed before age 25.
|
|
GENE:
|
GJB2
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
GJB2 gene testing is covered
for the following indication:
• Diagnosis of DFNB1 or DFNA3
in individuals with nonsyndromic hearing loss to aid in treatment.
|
|
GENE:
|
GJB6
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
GJB6 gene testing is covered
for the following indication:
• Diagnosis of DFNB1 or DFNA3
in individuals with nonsyndromic hearing loss to aid in treatment.
|
|
GENE:
|
HBA1/HBA2
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
HBA1/HBA2 gene testing is covered
for the following indications:
• To confirm the diagnosis of
alpha-thalassemia in a symptomatic individual.
• To confirm the diagnosis in
a pregnant woman with low hemoglobin when alpha-thalassemia is suspected.
|
|
GENE:
|
HEXA
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
HEXA gene testing is covered
for the following indication:
• As an adjunct to biochemical
testing in patients with low hexosaminidase A levels in blood. When individuals
are identified with apparent deficiency of hexosaminidase A enzymatic
activity, targeted mutation analysis can then be used to distinguish
pseudodeficiency alleles from disease-causing alleles.
|
|
GENE:
|
HFE
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
HFE-associated hereditary hemochromatosis
gene testing is covered for the following indication:
• Diagnosis of patients with
or without symptoms of iron overload with a serum transferrin saturation
>45% and/or elevated serum ferritin.
|
|
GENE:
|
HLA
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
HLA gene testing is covered
for the following indications:
• To determine histocompatibility
of tissue between organ and bone marrow donors and recipients prior
to transplant.
• For platelet transfusion for
patients refractory to treatment due to alloimmunization.
• Diagnosis of celiac disease
in symptomatic patients with equivocal results on small bowel biopsy
and serology, or in previously symptomatic patients who are asymptomatic
while on a gluten-free diet.
• Testing for the HLA-B*1502
allele prior to initiating treatment with carbamazepine in patients
from high-risk ethnic groups.
• Testing for the HLA-B*5701
allele for hypersensitivity reactions in patients prior to initiation
or reinitiation with treatments containing abacavir.
• Testing for the HLA-B*58:01
allele in patients prior to initiating treatment with allopurinol.
|
|
GENE:
|
HNF1A
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
HNF1A gene testing is covered
for the following indication:
• Diagnosis of Maturity-Onset
Diabetes of the Young Type 3 (MODY3) in patients with hyperglycemia
or non-insulin-dependent diabetes who have a family history of abnormal
glucose metabolism in at least two consecutive generations, with
the patient or ≥ 1 family member(s) diagnosed before age 25.
|
|
GENE:
|
HNF1B
|
Effective Date:
|
May 1, 2016
|
Coverage Guidelines:
|
HNF1B gene testing is covered
for the following indication:
• Diagnosis of Maturity-Onset
Diabetes of the Young Type 5 (MODY5) in patients with hyperglycemia
or non-insulin-dependent diabetes who have a family history of abnormal
glucose metabolism in at least two consecutive generations, with
the patient or ≥ 1 family member(s) diagnosed before age 25, and
who have structural or functional abnormalities of the kidneys.
|
|
GENE:
|
HNF4A
|
Effective Date:
|
May 1, 2016
|
Coverage Guidelines:
|
HNF4A gene testing is covered
for the following indication:
• Diagnosis of Maturity-Onset
Diabetes of the Young Type 1 (MODY1) in patients with hyperglycemia
or non-insulin-dependent diabetes who have a family history of abnormal
glucose metabolism in at least two consecutive generations, with
the patient or ≥ 1 family member(s) diagnosed before age 25.
|
|
GENE:
|
HTT
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
HTT gene testing is covered
for the following indication:
• To test for CAG repeat length
for diagnosis of Huntington Chorea/Disease (HD) in patients suspected
of having HD in the absence of a family history of HD.
|
|
GENE:
|
IGH
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
IGH gene testing is covered
for the following indications:
• For medical management of patients
with Acute Lymphoblastic Leukemia (ALL) through analysis of rearrangements
in the IGH gene to estimate Minimal Residual Disease (MRD) levels.
• For diagnostic evaluation of
rearrangements in the IGH gene in patients with suspected B-cell
Non-Hodgkin’s Lymphoma (NHL), but in whom clinical, immunophenotypic,
and histologic evaluation have provided inconclusive results.
|
|
GENE:
|
IGK
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
IGK gene testing is covered
for the following indications:
• For medical management of patients
with ALL through analysis of rearrangements in the IGK gene to estimate
MRD levels.
• For diagnostic
evaluation of rearrangements in the IGK gene in patients with suspected
B-cell NHL, but in whom clinical, immunophenotypic, and histologic
evaluations have provided inconclusive results.
|
|
GENE:
|
IL28B
|
Effective Date:
|
February 28, 2013
|
Coverage Guidelines:
|
IL28B gene testing is covered
for the following indication:
• For IL28B single nucleotide
polymorphism (SNP) testing in patients with chronic Hepatitis C
Virus (HCV) genotype 1 being considered for treatment with PegIFN/RBV
dual therapy.
|
|
GENE:
|
JAK2
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
JAK2 gene testing is covered
for the following indications:
• Diagnostic evaluation of individuals
presenting with clinical, laboratory, or pathological findings suggesting
classic forms of myeloproliferative neoplasms (MPN), that is, Polycythemia
Vera (PV), Essential Thrombocythemia (ET), or Primary Myelofibrosis
(PMF).
• Diagnostic
evaluation of PV through JAK2 Exon 12 variant detection in JAK2
p.Val617Phe negative individuals.
|
|
GENE:
|
KCNQ1, KCNH2, SCN5A,
KCNE1, and/or KCNE2
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
KCNQ1, KCNH2, SCN5A, KCNE1,
and/or KCNE2 gene testing is covered for the following indication:
• For patients with suspected
familial Long QT Syndrome for confirmation of diagnosis and treatment.
|
|
GENE:
|
KIT
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
KIT gene testing is covered
for the following indications:
• To confirm a diagnosis of a
gastrointestinal stromal tumor (GIST) in patients who are negative
by immunostaining.
• To determine primary resistance
to treatment with TKIs in patients with an advanced metastatic or unresectable
GIST.
• To determine
primary resistance to preoperative or postoperative treatment of
a GIST with TKIs.
|
|
GENE:
|
KMT2D and/or KDM6A
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
KMT2D and/or KDM6A gene testing
is covered for the following indication:
• To confirm a diagnosis of Kabuki
Syndrome (KS) in patients with symptoms compatible with KS.
|
|
GENE:
|
KRAS
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
KRAS gene testing is covered
for the following indication:
• To help guide administration
of anti-EGFR monoclonal antibodies.
|
|
TEST NAME:
|
MDxHealth Confirm MDx
|
Effective Date:
|
January 1, 2023
|
Coverage Guidelines:
|
The MDxHealth Confirm MDx is
covered for the following indications:
• Men with a previous diagnosis
of prostate cancer that have undergone a previous prostate biopsy
(within prior 24 months) and are being considered for a repeat prostate
biopsy due to persistent cancer-risk factors.
• Men with a previous diagnosis
of prostate cancer that have undergone a previous prostate biopsy
(within prior 24 months) and are being considered for a repeat prostate
biopsy due to elevated cancer-risk factors.
|
|
TEST NAME:
|
MDxHealth Select MDx
|
Effective Date:
|
January 1, 2023
|
Coverage Guidelines:
|
The MDxHealth Select MDx is
covered for the following indications:
• Men with previous diagnosis
of prostate cancer that are suspected of harboring prostate cancer.
|
|
GENE:
|
MECP2
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
MECP2 gene testing is covered
for the following indications:
• Testing for MECP2 sequence
variants in patients who meet established clinical diagnostic criteria
for classic or variant Rett Syndrome (RS).
• Testing for MECP2 sequence
variants in patients who have symptoms of RS, but do not meet established clinical
diagnostic criteria.
|
|
GENE:
|
MEFV
|
Effective Date:
|
June 16, 2014
|
Coverage Guidelines:
|
MEFV gene testing is covered
for the following indications:
• In patients exhibiting symptoms
of Familial Mediterranean Fever (FMF), including periodic episodes
of fever in combination with peritonitis, pleuritic, arthritis,
and erysipelas-like erythema.
• In patients from ethnic groups
considered at high risk for FMF who present with nephrotic syndrome
or amyloidosis, but do not meet the diagnostic criteria for FMF.
|
|
GENE:
|
MLH1, MSH2, MSH6, MSI,
PMS2, and/or EPCAM
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
Genetic testing for Lynch Syndrome
(LS) is covered in accordance with the most current NCCN Guidelines
for Colon Cancer.
|
|
GENE:
|
MPL
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
MPL gene testing is covered
for the following indication:
• Diagnostic evaluation of Myeloproliferative
Leukemia (MPL) variants to include Trp515Leu and Trp515Lys in JAK2
p.Val617Phe-negative individuals showing symptoms.
|
|
GENE:
|
MUTYH
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
MUTYH or MYH gene testing is
covered for the following indications:
• Diagnosis of MYH-Associated
Polyposis (MAP) in APC-negative colorectal polyposis patients, or
in polyposis patients who have a family history consistent with
autosomal recessive inheritance.
• Diagnosis of MAP in asymptomatic
siblings of patients with known MYH variants.
|
|
GENE:
|
Noninvasive Prenatal
Screening for Trisomies 13, 18, 21, X & Y
|
Effective Date:
|
March 5, 2015August
17, 2020
|
Coverage Guidelines:
|
Nonivasive Prenatal Screening
for Trisomies 13, 18, 21, X & Y is covered for the following
indication:
• In singleton
pregnancies with a high risk of fetal aneuploidy. (For
dates March 6, 2015 - August 16, 2020.)
• In accordance with the
most current ACOG guidelines.
Note: Preauthorization
is not required.
|
|
GENE:
|
NPM1
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
NPM1 gene testing is covered
for the following indication:
• To guide treatment decisions
for individuals with AML.
|
|
GENE:
|
NRAS
|
Effective Date:
|
October 3, 2014
|
Coverage Guidelines:
|
NRAS gene testing is covered
for the following indication:
• For patients with metastatic
colorectal cancer who are being considered for treatment with anti-EGFR monoclonal
antibodies, and who have had negative KRAS gene testing.
|
|
TEST NAME:
|
Oncotype DX® Breast Cancer
Assay (Oncotype DX®)
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
Oncotype DX® gene testing is
covered for the following indications:
• Estrogen Receptor (ER) positive
(+), lymph node (LN) negative (-), human EGFR 2 negative (HER2-)
breast cancer patients who are considering whether to use adjuvant
chemotherapy in addition to standard hormone therapy.
• ER+, HER2- breast cancer patients
with 1-3 involved ipsilateral axillary lymph nodes who are considering whether
to use adjuvant chemotherapy in addition to hormonal therapy.
|
|
GENE:
|
PAX8
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
PAX8 gene testing is covered
for the following indication:
• For individuals with indeterminate
thyroid FNA biopsy cytology for diagnosis of papillary thyroid carcinoma.
|
|
GENE:
|
PDGFRA
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
PDGFRA gene testing is covered
for the following indications:
• To confirm a diagnosis of a
GIST in patients who are negative by immunostaining.
• To determine primary resistance
to treatment with TKIs in patients with an advanced metastatic or unresectable
GIST.
• To determine
primary resistance to preoperative or postoperative treatment of
a GIST with TKIs.
|
|
GENE:
|
PML/RARalpha
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
PML/RARalpha gene testing is
covered for the following indications:
• Diagnostic assessment of individuals
with suspected acute promyelocytic leukemia (APL) by quantitative RT-PCR
(RQ-PCR).
• Diagnostic
assessment of individuals with suspected APL by qualitative RT-PCR.
• Monitoring response to treatment
and disease progression in individuals with APL by RQ-PCR.
|
|
GENE:
|
PMP22
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
PMP22 gene testing is covered
for the following indication:
• For the accurate diagnosis
and classification of hereditary polyneuropathies.
|
|
GENE:
|
PPP2R2B
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
PPP2R2B gene testing is covered
for the following indications:
• Diagnosis of Spinocerebellar
Ataxia Type 12 (SCA12) in patients with action tremor of the upper
extremities and signs of cerebellar and cortical dysfunction, in
addition to Indian ancestry and a family history consistent with
autosomal dominant inheritance.
• Diagnosis of SCA12 in symptomatic
family members of known SCA12 patients.
|
|
GENE:
|
PRSS1
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
PRSS1 gene testing is covered
for the following indications:
• To confirm a diagnosis of hereditary
pancreatitis in symptomatic patients with any of the following:
|
|
• A family history of pancreatitis
in a first-degree (parent, sibling, child) or second-degree (aunt,
uncle, grandparent) relative;
• An unexplained episode of documented
pancreatitis occurring in a child that has required hospitalization,
and where there is significant concern that hereditary pancreatitis
should be excluded;
• Recurrent (two or more separate,
documented episodes with hyper-amylasemia) attacks of acute pancreatitis
for which there is no explanation (anatomical anomalies, ampullary
or main pancreatic strictures, trauma, viral infection, gallstones,
alcohol, drugs, hyperlipidemia, etc.); or
• Unexplained (idiopathic) chronic
pancreatitis.
|
|
GENE:
|
PTEN
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
PTEN gene testing is covered
for the following indications:
• For patients with ASDs and
macrocephaly (Head circumference greater than 2 standard above the
mean for age).
• PTEN variant testing in individuals
suspected of being affected with Cowden Syndrome (CS) or Bannayan-Riley-Ruvalcaba
Syndrome (BRRS).
|
|
GENE:
|
RET
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
RET gene testing is covered
for the following indications:
• Multiple endocrine neoplasia
type 2 (MEN2) gene testing in patients with the clinical manifestations
of MEN2A, MEN2B, or familial medullary thyroid carcinoma (FMTC),
including those with apparently sporadic Medullary Thyroid Carcinoma
(MTC) or pheochromocytoma.
• MEN2 gene testing to confirm
a diagnosis in the at-risk relatives of genetically confirmed MEN2
patients.
|
|
GENE:
|
ROS1
|
Effective Date:
|
January 12, 2016
|
Coverage Guidelines:
|
ROS1 gene testing is covered
for the following indication:.
• For patients who have wild
type (negative) EGFR or ALK gene testing, reflex testing to ROS1
should be ordered for the treatment of non-small cell lung carcinoma.
|
|
GENE:
|
RYR1
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
RYR1 gene testing is covered
for the following indications:
• To test clinically confirmed
Malignant Hyperthermia Susceptibility (MHS) patients for variants
in the RYR1 gene to facilitate diagnostic testing in at-risk relatives.
• To diagnose MHS in at-risk
relatives of patients with clinically confirmed MHS.
|
|
GENE:
|
SDHA, SDHB, SDHC, SDHD,
SDHAF2, MAX, and/or TMEM127
|
Effective Date:
|
June 16, 2014
|
Coverage Guidelines:
|
SDHA, SDHB, SDHC, SDHD, SDHAF2,
MAX, and/or TMEM127 gene testing is covered for the following indication:
• To diagnose a hereditary paraganglioma
(PGL) or pheochromocytoma (PCC) syndrome in patients with PGLs and/or
PCCs.
|
|
GENE:
|
SERPINA1
|
Effective Date:
|
May 27, 2014
|
Coverage Guidelines:
|
SERPINA1 gene testing is covered
for the following indication:
• For guidance in diagnosis of
inconclusive cases of Alpha-1 Antitrypsin Deficiency (AATD) in individuals
with Chronic Obstructive Pulmonary Disease (COPD), unexplained liver
disease, family history of AATD, or environmental exposures leading
to airflow obstruction after serum Alpha-1 Antitrypsin (AAT) protein levels
and protein phenotyping has been completed.
|
|
GENE:
|
SMAD4
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
SMAD4 gene testing is covered
for the following indications:
• To clarify the diagnosis of
individuals with JPS.
• If a known SMAD4 mutation is
in the family, genetic testing should be performed in the first
six months of life due to hereditary hemorrhagic telangiectasia
risk.
|
|
GENE:
|
SMN1/SMN2
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
SMN1/SMN2 gene testing is covered
for the following indication:
• Diagnosis of patients with
hypotonia and muscle weakness who are suspected of having Spinal
Muscular Atrophy (SMA).
|
|
GENE:
|
SNRPN/UBE3A
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
SNRPN/UBE3A gene testing is
covered for the following indications:
• When a clinical diagnosis of
Prader-Willi Syndrome (PWS) is suspected, the following findings
justify genetic testing:
|
|
• From birth to age two: Hypotonia
with poor suck (neonatal period).
• From age two to age six: Hypotonia
with history of poor suck, global developmental delay.
• From age six to age 12: Hypotonia
with history of poor suck, global developmental delay, excessive eating
with central obesity if uncontrolled.
• From age 13 years to adulthood:
Cognitive impairment, usually mild intellectual disability; excessive eating
with central obesity if uncontrolled, hypothalamic hypogonadism
and/or typical behavior problems.
|
• When a clinical diagnosis of
Angelman Syndrome is suspected, the following findings justify genetic testing:
|
|
• As part of the evaluation of
patients with developmental delay, regardless of age.
• As part of the evaluation of
patients with a balance or movement disorder such as ataxia of gait.
May not appear as frank ataxia but can be forward lurching, unsteadiness,
clumsiness, or quick, jerky motions.
• As part of the evaluation of
patients with uniqueness of behavior: any combination of frequent
laughter/smiling; apparent happy demeanor; easily excitable personality,
often with uplifted hand-flapping or waving movements; hypermotoric
behavior.
• Speech
impairment, none or minimal use of words; receptive and non-verbal
communication skills higher than verbal ones.
|
|
GENE:
|
STK11
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
STK11 gene testing is covered
for the following indication:
• To confirm a diagnosis of Peutz-Jeghers
Syndrome (PJS) in proband patients with a presumptive or probable
diagnosis of PJS.
|
|
GENE:
|
TBP
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
TBP gene testing is covered
for the following indications:
• Diagnosis of Spinocerebellar
Ataxia Type 17 (SCA17) in ataxia patients exhibiting variable combinations
of cognitive decline, psychiatric disturbance, and movement disorders.
• Diagnosis of SCA17 in symptomatic
family members of known SCA17 patients.
• Diagnosis of SCA17 in patients
suspected of having Huntington Disease (HD) who have tested negative
for a pathogenic variant in the HD gene.
|
|
GENE:
|
TGFBR2
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
TGFBR2 gene testing is covered
for the following indication:
• To facilitate the diagnosis
of Marfan syndrome in patients testing negative for FBN1 gene variants.
|
|
GENE:
|
TP53
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
TP53 gene testing is covered
for the following indication:
• Diagnosis of patients satisfying
the criteria for classic Li-Fraumeni Syndrome (LFS) or Li-Fraumeni-Like Syndrome
(LFLS), or the Chompret criteria for TP53 gene testing.
|
|
GENE:
|
TPMT
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
TPMT gene testing is covered
for the following indication:
• TPMT genotyping or phenotyping
in patients with Inflammatory Bowel Disease (IBD) prior to administration
of thiopurines (azathioprine, 6-MP, and 6-TG).
|
|
GENE:
|
TRG
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
TRG gene testing is covered
for the following indication:
• Diagnosis and treatment of
T-cell neoplasms.
|
|
GENE:
|
UGT1A1
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
UGT1A1 gene testing is covered
for the following indications:
• Prior to irinotecan administration
in patients with CRC to lower the starting dose of irinotecan in
patients with the UGT1A1*28/UGT1A1*28 genotype.
• Prior to irinotecan administration
in patients with CRC to increase the starting dose of irinotecan
in patients with the UGT1A1*1/UGT1A1*1 or UGT1A1*1/UGT1A1*28 genotypes.
|
|
GENE:
|
UPD
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
UPD gene testing is covered
for the following indication:
• For neonates, infants, children
or adults symptomatic for Beckwith-Wiedermann Syndrome (BWS) to diagnose
Uniparental Disomy (UPD) for chromosome 11.
|
|
GENE:
|
VHL
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
VHL gene testing is covered
for the following indications:
• Diagnosis of Von Hippel-Lindau
(VHL) syndrome in patients presenting with pheochromocytoma, paraganglioma,
or central nervous system hemangioblastoma.
• Confirmation of diagnosis in
individuals with symptoms consistent with VHL syndrome.
|
|
GENE:
|
VKORC1
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
VKORC1 gene testing is covered
for the following indication:
• For the initiation and management
of warfarin treatment.
|
|
TEST NAME:
|
Y Chromosome Microdeletion
Analysis
|
Effective Date:
|
January 1, 2013
|
Coverage Guidelines:
|
Y Chromosome Microdeletion
Analysis is covered for the following indication:
• For detecting submicroscopic
deletions involving the Y chromosome in men with azoospermia, oligozoospermia,
or teratozoospermia.
|