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New E&M codes for the year 2019

For 2019, the E&M section of CPT code book will have two new codes for Interprofessional Telephone/Internet/Electronic Health Record...

2019 Revised Codes


0335T    Insertion of sinus tarsi implant
0362T    Behavior identification supporting assessment,
    each 15 minutes of technicians' time face-to-face
    with a patient, requiring the following
    components: administration by the physician or
    other qualified health care professional who is on
    site; with the assistance of two or more
    technicians; for a patient who exhibits
    destructive behavior; completion in an environment
    that is customized to the patient's behavior.
0373T    Adaptive behavior treatment with protocol
    modification, each 15 minutes of technicians' time
    face-to-face with a patient, requiring the
    following components: administration by the
    physician or other qualified health care
    professional who is on site; with the assistance
    of two or more technicians; for a patient who
    exhibits destructive behavior; completion in an
    environment that is customized to the patient's
    behavior.
10021    Fine needle aspiration biopsy, without imaging
    guidance; first lesion
36568    Insertion of peripherally inserted central venous
    catheter (PICC), without subcutaneous port or
    pump, without imaging guidance; younger than 5
    years of age
36569    Insertion of peripherally inserted central venous
    catheter (PICC), without subcutaneous port or
    pump, without imaging guidance; age 5 years or
    older
36584    Replacement, complete, of a peripherally inserted
    central venous catheter (PICC), without
    subcutaneous port or pump, through same venous
    access, including all imaging guidance, image
    documentation, and all associated radiological
    supervision and interpretation required to perform
    the replacement
61641    Balloon dilatation of intracranial vasospasm,
    percutaneous; each additional vessel in same
    vascular territory (List separately in addition to
    code for primary procedure)
61642    Balloon dilatation of intracranial vasospasm,
    percutaneous; each additional vessel in different
    vascular territory (List separately in addition to
    code for primary procedure)
74485    Dilation of ureter(s) or urethra, radiological
    supervision and interpretation
77021    Magnetic resonance imaging guidance for needle
    placement (eg, for biopsy, needle aspiration,
    injection, or placement of localization device)
    radiological supervision and interpretation
77022    Magnetic resonance imaging guidance for, and
    monitoring of, parenchymal tissue ablation
77387    Guidance for localization of target volume for
    delivery of radiation treatment, includes
    intrafraction tracking, when performed
81162    BRCA1 (BRCA1, DNA repair associated), BRCA2
    (BRCA2, DNA repair associated) (eg, hereditary
    breast and ovarian cancer) gene analysis; full
    sequence analysis and full duplication/deletion
    analysis (ie, detection of large gene
    rearrangements)
81212    BRCA1 (BRCA1, DNA repair associated), BRCA2
    (BRCA2, DNA repair associated) (eg, hereditary
    breast and ovarian cancer) gene analysis;
    185delAG, 5385insC, 6174delT variants
81215    BRCA1 (BRCA1, DNA repair associated) (eg,
    hereditary breast and ovarian cancer) gene
    analysis; known familial variant
81216    BRCA2 (BRCA2, DNA repair associated) (eg,
    hereditary breast and ovarian cancer) gene
    analysis; full sequence analysis
81217    BRCA2 (BRCA2, DNA repair associated) (eg,
    hereditary breast and ovarian cancer) gene
    analysis; known familial variant
81244    FMR1 (fragile X mental retardation 1) (eg, fragile
    X mental retardation) gene analysis;
    characterization of alleles (eg, expanded size and
    promoter methylation status)
81287    MGMT (O-6-methylguanine-DNA methyltransferase)
    (eg, glioblastoma multiforme) promoter methylation
    analysis
81327    SEPT9 (Septin9) (eg, colorectal cancer) promoter
    methylation analysis
81400    Molecular pathology procedure, Level 1 (eg,
    identification of single germline variant [eg,
    SNP] by techniques such as restriction enzyme
    digestion or melt curve analysis) ACADM (acyl-CoA
    dehydrogenase, C-4 to C-12 straight chain, MCAD)
    (eg, medium chain acyl dehydrogenase deficiency),
    K304E variant ACE (angiotensin converting enzyme)
    (eg, hereditary blood pressure regulation),
    insertion/deletion variant AGTR1 (angiotensin II
    receptor, type 1) (eg, essential hypertension),
    1166A>C variant BCKDHA (branched chain keto acid
    dehydrogenase E1, alpha polypeptide) (eg, maple
    syrup urine disease, type 1A), Y438N variant CCR5
    (chemokine C-C motif receptor 5) (eg, HIV
    resistance), 32-bp deletion mutation/794 825del32
    deletion CLRN1 (clarin 1) (eg, Usher syndrome,
    type 3), N48K variant F2 (coagulation factor 2)
    (eg, hereditary hypercoagulability), 1199G>A
    variant F5 (coagulation factor V) (eg, hereditary
    hypercoagulability), HR2 variant F7 (coagulation
    factor VII [serum prothrombin conversion
    accelerator]) (eg, hereditary hypercoagulability),
    R353Q variant F13B (coagulation factor XIII, B
    polypeptide) (eg, hereditary hypercoagulability),
    V34L variant FGB (fibrinogen beta chain) (eg,
    hereditary ischemic heart disease), -455G>A
    variant FGFR1 (fibroblast growth factor receptor
    1) (eg, Pfeiffer syndrome type 1,
    craniosynostosis), P252R variant FGFR3 (fibroblast
    growth factor receptor 3) (eg, Muenke syndrome),
    P250R variant FKTN (fukutin) (eg, Fukuyama
    congenital muscular dystrophy), retrotransposon
    insertion variant GNE (glucosamine
    [UDP-N-acetyl]-2-epimerase/N-acetylmannosamine
    kinase) (eg, inclusion body myopathy 2 [IBM2],
    Nonaka myopathy), M712T variant IVD
    (isovaleryl-CoA dehydrogenase) (eg, isovaleric
    acidemia), A282V variant LCT (lactase-phlorizin
    hydrolase) (eg, lactose intolerance), 13910 C>T
    variant NEB (nebulin) (eg, nemaline myopathy 2),
    exon 55 deletion variant PCDH15
    (protocadherin-related 15) (eg, Usher syndrome
    type 1F), R245X variant SERPINE1 (serpine
    peptidase inhibitor clade E, member 1, plasminogen
    activator inhibitor -1, PAI-1) (eg,
    thrombophilia), 4G variant SHOC2 (soc-2 suppressor
    of clear homolog) (eg, Noonan-like syndrome with
    loose anagen hair), S2G variant SRY (sex
    determining region Y) (eg, 46,XX testicular
    disorder of sex development, gonadal dysgenesis),
    gene analysis TOR1A (torsin family 1, member A
    [torsin A]) (eg, early-onset primary dystonia
    [DYT1]), 907_909delGAG (904_906delGAG) variant
81401    Molecular pathology procedure, Level 2 (eg, 2-10
    SNPs, 1 methylated variant, or 1 somatic variant
    [typically using nonsequencing target variant
    analysis], or detection of a dynamic mutation
    disorder/triplet repeat) ABCC8 (ATP-binding
    cassette, sub-family C [CFTR/MRP], member 8) (eg,
    familial hyperinsulinism), common variants (eg,
    c.3898-9G>A [c.3992-9G>A], F1388del) ABL1 (ABL
    proto-oncogene 1, non-receptor tyrosine kinase)
    (eg, acquired imatinib resistance), T315I variant
    ACADM (acyl-CoA dehydrogenase, C-4 to C-12
    straight chain, MCAD) (eg, medium chain acyl
    dehydrogenase deficiency), commons variants (eg,
    K304E, Y42H) ADRB2 (adrenergic beta-2 receptor
    surface) (eg, drug metabolism), common variants
    (eg, G16R, Q27E) APOB (apolipoprotein B) (eg,
    familial hypercholesterolemia type B), common
    variants (eg, R3500Q, R3500W) APOE (apolipoprotein
    E) (eg, hyperlipoproteinemia type III,
    cardiovascular disease, Alzheimer disease), common
    variants (eg, *2, *3, *4) CBFB/MYH11 (inv(16))
    (eg, acute myeloid leukemia), qualitative, and
    quantitative, if performed CBS
    (cystathionine-beta-synthase) (eg, homocystinuria,
    cystathionine beta-synthase deficiency), common
    variants (eg, I278T, G307S) CCND1/IGH (BCL1/IgH,
    t(11;14)) (eg, mantle cell lymphoma) translocation
    analysis, major breakpoint, qualitative, and
    quantitative, if performed CFH/ARMS2 (complement
    factor H/age-related maculopathy susceptibility 2)
    (eg, macular degeneration), common variants (eg,
    Y402H [CFH], A69S [ARMS2]) DEK/NUP214 (t(6;9))
    (eg, acute myeloid leukemia), translocation
    analysis, qualitative, and quantitative, if
    performed E2A/PBX1 (t(1;19)) (eg, acute
    lymphocytic leukemia), translocation analysis,
    qualitative, and quantitative, if performed
    EML4/ALK (inv(2)) (eg, non-small cell lung
    cancer), translocation or inversion analysis
    ETV6/NTRK3 (t(12;15)) (eg, congenital/infantile
    fibrosarcoma), translocation analysis,
    qualitative, and quantitative, if performed
    ETV6/RUNX1 (t(12;21)) (eg, acute lymphocytic
    leukemia), translocation analysis, qualitative,
    and quantitative, if performed EWSR1/ATF1
    (t(12;22)) (eg, clear cell sarcoma), translocation
    analysis, qualitative, and quantitative, if
    performed EWSR1/ERG (t(21;22)) (eg, Ewing
    sarcoma/peripheral neuroectodermal tumor),
    translocation analysis, qualitative, and
    quantitative, if performed EWSR1/FLI1 (t(11;22))
    (eg, Ewing sarcoma/peripheral neuroectodermal
    tumor), translocation analysis, qualitative, and
    quantitative, if performed EWSR1/WT1 (t(11;22))
    (eg, desmoplastic small round cell tumor),
    translocation analysis, qualitative, and
    quantitative, if performed F11 (coagulation factor
    XI) (eg, coagulation disorder), common variants
    (eg, E117X [Type II], F283L [Type III],
    IVS14del14, and IVS14+1G>A [Type I]) FGFR3
    (fibroblast growth factor receptor 3) (eg,
    achondroplasia, hypochondroplasia), common
    variants (eg, 1138G>A, 1138G>C, 1620C>A, 1620C>G)
    FIP1L1/PDGFRA (del[4q12]) (eg, imatinib-sensitive
    chronic eosinophilic leukemia), qualitative, and
    quantitative, if performed FLG (filaggrin) (eg,
    ichthyosis vulgaris), common variants (eg, R501X,
    2282del4, R2447X, S3247X, 3702delG) FOXO1/PAX3
    (t(2;13)) (eg, alveolar rhabdomyosarcoma),
    translocation analysis, qualitative, and
    quantitative, if performed FOXO1/PAX7 (t(1;13))
    (eg, alveolar rhabdomyosarcoma), translocation
    analysis, qualitative, and quantitative, if
    performed FUS/DDIT3 (t(12;16)) (eg, myxoid
    liposarcoma), translocation analysis, qualitative,
    and quantitative, if performed GALC
    (galactosylceramidase) (eg, Krabbe disease),
    common variants (eg, c.857G>A, 30-kb deletion)
    GALT (galactose-1-phosphate uridylyltransferase)
    (eg, galactosemia), common variants (eg, Q188R,
    S135L, K285N, T138M, L195P, Y209C, IVS2-2A>G,
    P171S, del5kb, N314D, L218L/N314D) H19 (imprinted
    maternally expressed transcript [non-protein
    coding]) (eg, Beckwith-Wiedemann syndrome),
    methylation analysis IGH@/BCL2 (t(14;18)) (eg,
    follicular lymphoma), translocation analysis;
    single breakpoint (eg, major breakpoint region
    [MBR] or minor cluster region [mcr]), qualitative
    or quantitative (When both MBR and mcr breakpoints
    are performed, use 81402) KCNQ1OT1 (KCNQ1
    overlapping transcript 1 [non-protein coding])
    (eg, Beckwith-Wiedemann syndrome), methylation
    analysis LINC00518 (long intergenic non-protein
    coding RNA 518) (eg, melanoma), expression
    analysis LRRK2 (leucine-rich repeat kinase 2) (eg,
    Parkinson disease), common variants (eg, R1441G,
    G2019S, I2020T) MED12 (mediator complex subunit
    12) (eg, FG syndrome type 1, Lujan syndrome),
    common variants (eg, R961W, N1007S) MEG3/DLK1
    (maternally expressed 3 [non-protein
    coding]/delta-like 1 homolog [Drosophila]) (eg,
    intrauterine growth retardation), methylation
    analysis MLL/AFF1 (t(4;11)) (eg, acute
    lymphoblastic leukemia), translocation analysis,
    qualitative, and quantitative, if performed
    MLL/MLLT3 (t(9;11)) (eg, acute myeloid leukemia),
    translocation analysis, qualitative, and
    quantitative, if performed MT-ATP6
    (mitochondrially encoded ATP synthase 6) (eg,
    neuropathy with ataxia and retinitis pigmentosa
    [NARP], Leigh syndrome), common variants (eg,
    m.8993T>G, m.8993T>C) MT-ND4, MT-ND6
    (mitochondrially encoded NADH dehydrogenase 4,
    mitochondrially encoded NADH dehydrogenase 6) (eg,
    Leber hereditary optic neuropathy [LHON]), common
    variants (eg, m.11778G>A, m.3460G>A, m.14484T>C)
    MT-ND5 (mitochondrially encoded tRNA leucine 1
    [UUA/G], mitochondrially encoded NADH
    dehydrogenase 5) (eg, mitochondrial encephalopathy
    with lactic acidosis and stroke-like episodes
    [MELAS]), common variants (eg, m.3243A>G,
    m.3271T>C, m.3252A>G, m.13513G>A) MT-RNR1
    (mitochondrially encoded 12S RNA) (eg,
    nonsyndromic hearing loss), common variants (eg,
    m.1555A>G, m.1494C>T) MT-TK (mitochondrially
    encoded tRNA lysine) (eg, myoclonic epilepsy with
    ragged-red fibers [MERRF]), common variants (eg,
    m.8344A>G, m.8356T>C) MT-TL1 (mitochondrially
    encoded tRNA leucine 1 [UUA/G]) (eg, diabetes and
    hearing loss), common variants (eg, m.3243A>G,
    m.14709 T>C) MT-TL1 MT-TS1, MT-RNR1
    (mitochondrially encoded tRNA serine 1 [UCN],
    mitochondrially encoded 12S RNA) (eg, nonsyndromic
    sensorineural deafness [including
    aminoglycoside-induced nonsyndromic deafness]),
    common variants (eg, m.7445A>G, m.1555A>G) MUTYH
    (mutY homolog [E. coli]) (eg, MYH-associated
    polyposis), common variants (eg, Y165C, G382D)
    NOD2 (nucleotide-binding oligomerization domain
    containing 2) (eg, Crohn's disease, Blau
    syndrome), common variants (eg, SNP 8, SNP 12, SNP
    13) NPM1/ALK (t(2;5)) (eg, anaplastic large cell
    lymphoma), translocation analysis PAX8/PPARG
    (t(2;3) (q13;p25)) (eg, follicular thyroid
    carcinoma), translocation analysis PRAME
    (preferentially expressed antigen in melanoma)
    (eg, melanoma), expression analysis PRSS1
    (protease, serine, 1 [trypsin 1]) (eg, hereditary
    pancreatitis), common variants (eg, N29I, A16V,
    R122H) PYGM (phosphorylase, glycogen, muscle) (eg,
    glycogen storage disease type V, McArdle disease),
    common variants (eg, R50X, G205S) RUNX1/RUNX1T1
    (t(8;21)) (eg, acute myeloid leukemia)
    translocation analysis, qualitative, and
    quantitative, if performed SS18/SSX1 (t(X;18))
    (eg, synovial sarcoma), translocation analysis,
    qualitative, and quantitative, if performed
    SS18/SSX2 (t(X;18)) (eg, synovial sarcoma),
    translocation analysis, qualitative, and
    quantitative, if performed VWF (von Willebrand
    factor) (eg, von Willebrand disease type 2N),
    common variants (eg, T791M, R816W, R854Q)
81403    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) ANG
    (angiogenin, ribonuclease, RNase A family, 5) (eg,
    amyotrophic lateral sclerosis), full gene sequence
    ARX (aristaless-related homeobox) (eg, X-linked
    lissencephaly with ambiguous genitalia, X-linked
    mental retardation), duplication/deletion analysis
    CEL (carboxyl ester lipase [bile salt-stimulated
    lipase]) (eg, maturity-onset diabetes of the young
    [MODY]), targeted sequence analysis of exon 11
    (eg, c.1785delC, c.1686delT) CTNNB1 (catenin
    [cadherin-associated protein], beta 1, 88kDa) (eg,
    desmoid tumors), targeted sequence analysis (eg,
    exon 3) DAZ/SRY (deleted in azoospermia and sex
    determining region Y) (eg, male infertility),
    common deletions (eg, AZFa, AZFb, AZFc, AZFd)
    DNMT3A (DNA [cytosine-5-]-methyltransferase 3
    alpha) (eg, acute myeloid leukemia), targeted
    sequence analysis (eg, exon 23) EPCAM (epithelial
    cell adhesion molecule) (eg, Lynch syndrome),
    duplication/deletion analysis F8 (coagulation
    factor VIII) (eg, hemophilia A), inversion
    analysis, intron 1 and intron 22A F12 (coagulation
    factor XII [Hageman factor]) (eg, angioedema,
    hereditary, type III; factor XII deficiency),
    targeted sequence analysis of exon 9 FGFR3
    (fibroblast growth factor receptor 3) (eg,
    isolated craniosynostosis), targeted sequence
    analysis (eg, exon 7) (For targeted sequence
    analysis of multiple FGFR3 exons, use 81404) GJB1
    (gap junction protein, beta 1) (eg,
    Charcot-Marie-Tooth X-linked), full gene sequence
    GNAQ (guanine nucleotide-binding protein G[q]
    subunit alpha) (eg, uveal melanoma), common
    variants (eg, R183, Q209) Human erythrocyte
    antigen gene analyses (eg, SLC14A1 [Kidd blood
    group], BCAM [Lutheran blood group], ICAM4
    [Landsteiner-Wiener blood group], SLC4A1 [Diego
    blood group], AQP1 [Colton blood group], ERMAP
    [Scianna blood group], RHCE [Rh blood group, CcEe
    antigens], KEL [Kell blood group], DARC [Duffy
    blood group], GYPA, GYPB, GYPE [MNS blood group],
    ART4 [Dombrock blood group]) (eg, sickle-cell
    disease, thalassemia, hemolytic transfusion
    reactions, hemolytic disease of the fetus or
    newborn), common variants HRAS (v-Ha-ras Harvey
    rat sarcoma viral oncogene homolog) (eg, Costello
    syndrome), exon 2 sequence JAK2 (Janus kinase 2)
    (eg, myeloproliferative disorder), exon 12
    sequence and exon 13 sequence, if performed KCNC3
    (potassium voltage-gated channel, Shaw-related
    subfamily, member 3) (eg, spinocerebellar ataxia),
    targeted sequence analysis (eg, exon 2) KCNJ2
    (potassium inwardly-rectifying channel, subfamily
    J, member 2) (eg, Andersen-Tawil syndrome), full
    gene sequence KCNJ11 (potassium
    inwardly-rectifying channel, subfamily J, member
    11) (eg, familial hyperinsulinism), full gene
    sequence Killer cell immunoglobulin-like receptor
    (KIR) gene family (eg, hematopoietic stem cell
    transplantation), genotyping of KIR family genes
    Known familial variant not otherwise specified,
    for gene listed in Tier 1 or Tier 2, or identified
    during a genomic sequencing procedure, DNA
    sequence analysis, each variant exon (For a known
    familial variant that is considered a common
    variant, use specific common variant Tier 1 or
    Tier 2 code) MC4R (melanocortin 4 receptor) (eg,
    obesity), full gene sequence MICA (MHC class I
    polypeptide-related sequence A) (eg, solid organ
    transplantation), common variants (eg, *001, *002)
    MPL (myeloproliferative leukemia virus oncogene,
    thrombopoietin receptor, TPOR) (eg,
    myeloproliferative disorder), exon 10 sequence
    MT-RNR1 (mitochondrially encoded 12S RNA) (eg,
    nonsyndromic hearing loss), full gene sequence
    MT-TS1 (mitochondrially encoded tRNA serine 1)
    (eg, nonsyndromic hearing loss), full gene
    sequence NDP (Norrie disease [pseudoglioma]) (eg,
    Norrie disease), duplication/deletion analysis
    NHLRC1 (NHL repeat containing 1) (eg, progressive
    myoclonus epilepsy), full gene sequence PHOX2B
    (paired-like homeobox 2b) (eg, congenital central
    hypoventilation syndrome), duplication/deletion
    analysis PLN (phospholamban) (eg, dilated
    cardiomyopathy, hypertrophic cardiomyopathy), full
    gene sequence RHD (Rh blood group, D antigen) (eg,
    hemolytic disease of the fetus and newborn, Rh
    maternal/fetal compatibility), deletion analysis
    (eg, exons 4, 5, and 7, pseudogene) RHD (Rh blood
    group, D antigen) (eg, hemolytic disease of the
    fetus and newborn, Rh maternal/fetal
    compatibility), deletion analysis (eg, exons 4, 5,
    and 7, pseudogene), performed on cell-free fetal
    DNA in maternal blood (For human erythrocyte gene
    analysis of RHD, use a separate unit of 81403)
    SH2D1A (SH2 domain containing 1A) (eg, X-linked
    lymphoproliferative syndrome),
    duplication/deletion analysis TWIST1 (twist
    homolog 1 [Drosophila]) (eg, Saethre-Chotzen
    syndrome), duplication/deletion analysis UBA1
    (ubiquitin-like modifier activating enzyme 1) (eg,
    spinal muscular atrophy, X-linked), targeted
    sequence analysis (eg, exon 15) VHL (von
    Hippel-Lindau tumor suppressor) (eg, von
    Hippel-Lindau familial cancer syndrome),
    deletion/duplication analysis VWF (von Willebrand
    factor) (eg, von Willebrand disease types 2A, 2B,
    2M), targeted sequence analysis (eg, exon 28)
81404    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) ACADS (acyl-CoA dehydrogenase, C-2 to
    C-3 short chain) (eg, short chain acyl-CoA
    dehydrogenase deficiency), targeted sequence
    analysis (eg, exons 5 and 6) AQP2 (aquaporin 2
    [collecting duct]) (eg, nephrogenic diabetes
    insipidus), full gene sequence ARX (aristaless
    related homeobox) (eg, X-linked lissencephaly with
    ambiguous genitalia, X-linked mental retardation),
    full gene sequence AVPR2 (arginine vasopressin
    receptor 2) (eg, nephrogenic diabetes insipidus),
    full gene sequence BBS10 (Bardet-Biedl syndrome
    10) (eg, Bardet-Biedl syndrome), full gene
    sequence BTD (biotinidase) (eg, biotinidase
    deficiency), full gene sequence C10orf2
    (chromosome 10 open reading frame 2) (eg,
    mitochondrial DNA depletion syndrome), full gene
    sequence CAV3 (caveolin 3) (eg, CAV3-related
    distal myopathy, limb-girdle muscular dystrophy
    type 1C), full gene sequence CD40LG (CD40 ligand)
    (eg, X-linked hyper IgM syndrome), full gene
    sequence CDKN2A (cyclin-dependent kinase inhibitor
    2A) (eg, CDKN2A-related cutaneous malignant
    melanoma, familial atypical mole-malignant
    melanoma syndrome), full gene sequence CLRN1
    (clarin 1) (eg, Usher syndrome, type 3), full gene
    sequence COX6B1 (cytochrome c oxidase subunit VIb
    polypeptide 1) (eg, mitochondrial respiratory
    chain complex IV deficiency), full gene sequence
    CPT2 (carnitine palmitoyltransferase 2) (eg,
    carnitine palmitoyltransferase II deficiency),
    full gene sequence CRX (cone-rod homeobox) (eg,
    cone-rod dystrophy 2, Leber congenital amaurosis),
    full gene sequence CYP1B1 (cytochrome P450, family
    1, subfamily B, polypeptide 1) (eg, primary
    congenital glaucoma), full gene sequence EGR2
    (early growth response 2) (eg,
    Charcot-Marie-Tooth), full gene sequence EMD
    (emerin) (eg, Emery-Dreifuss muscular dystrophy),
    duplication/deletion analysis EPM2A (epilepsy,
    progressive myoclonus type 2A, Lafora disease
    [laforin]) (eg, progressive myoclonus epilepsy),
    full gene sequence FGF23 (fibroblast growth factor
    23) (eg, hypophosphatemic rickets), full gene
    sequence FGFR2 (fibroblast growth factor receptor
    2) (eg, craniosynostosis, Apert syndrome, Crouzon
    syndrome), targeted sequence analysis (eg, exons
    8, 10) FGFR3 (fibroblast growth factor receptor 3)
    (eg, achondroplasia, hypochondroplasia), targeted
    sequence analysis (eg, exons 8, 11, 12, 13) FHL1
    (four and a half LIM domains 1) (eg,
    Emery-Dreifuss muscular dystrophy), full gene
    sequence FKRP (fukutin related protein) (eg,
    congenital muscular dystrophy type 1C [MDC1C],
    limb-girdle muscular dystrophy [LGMD] type 2I),
    full gene sequence FOXG1 (forkhead box G1) (eg,
    Rett syndrome), full gene sequence FSHMD1A
    (facioscapulohumeral muscular dystrophy 1A) (eg,
    facioscapulohumeral muscular dystrophy),
    evaluation to detect abnormal (eg, deleted)
    alleles FSHMD1A (facioscapulohumeral muscular
    dystrophy 1A) (eg, facioscapulohumeral muscular
    dystrophy), characterization of haplotype(s) (ie,
    chromosome 4A and 4B haplotypes) GH1 (growth
    hormone 1) (eg, growth hormone deficiency), full
    gene sequence GP1BB (glycoprotein Ib [platelet],
    beta polypeptide) (eg, Bernard-Soulier syndrome
    type B), full gene sequence (For common deletion
    variants of alpha globin 1 and alpha globin 2
    genes, use 81257) HNF1B (HNF1 homeobox B) (eg,
    maturity-onset diabetes of the young [MODY]),
    duplication/deletion analysis HRAS (v-Ha-ras
    Harvey rat sarcoma viral oncogene homolog) (eg,
    Costello syndrome), full gene sequence HSD3B2
    (hydroxy-delta-5-steroid dehydrogenase, 3 beta-
    and steroid delta-isomerase 2) (eg,
    3-beta-hydroxysteroid dehydrogenase type II
    deficiency), full gene sequence HSD11B2
    (hydroxysteroid [11-beta] dehydrogenase 2) (eg,
    mineralocorticoid excess syndrome), full gene
    sequence HSPB1 (heat shock 27kDa protein 1) (eg,
    Charcot-Marie-Tooth disease), full gene sequence
    INS (insulin) (eg, diabetes mellitus), full gene
    sequence KCNJ1 (potassium inwardly-rectifying
    channel, subfamily J, member 1) (eg, Bartter
    syndrome), full gene sequence KCNJ10 (potassium
    inwardly-rectifying channel, subfamily J, member
    10) (eg, SeSAME syndrome, EAST syndrome,
    sensorineural hearing loss), full gene sequence
    LITAF (lipopolysaccharide-induced TNF factor) (eg,
    Charcot-Marie-Tooth), full gene sequence MEFV
    (Mediterranean fever) (eg, familial Mediterranean
    fever), full gene sequence MEN1 (multiple
    endocrine neoplasia I) (eg, multiple endocrine
    neoplasia type 1, Wermer syndrome),
    duplication/deletion analysis MMACHC
    (methylmalonic aciduria [cobalamin deficiency]
    cblC type, with homocystinuria) (eg, methylmalonic
    acidemia and homocystinuria), full gene sequence
    MPV17 (MpV17 mitochondrial inner membrane protein)
    (eg, mitochondrial DNA depletion syndrome),
    duplication/deletion analysis NDP (Norrie disease
    [pseudoglioma]) (eg, Norrie disease), full gene
    sequence NDUFA1 (NADH dehydrogenase [ubiquinone] 1
    alpha subcomplex, 1, 7.5kDa) (eg, Leigh syndrome,
    mitochondrial complex I deficiency), full gene
    sequence NDUFAF2 (NADH dehydrogenase [ubiquinone]
    1 alpha subcomplex, assembly factor 2) (eg, Leigh
    syndrome, mitochondrial complex I deficiency),
    full gene sequence NDUFS4 (NADH dehydrogenase
    [ubiquinone] Fe-S protein 4, 18kDa [NADH-coenzyme
    Q reductase]) (eg, Leigh syndrome, mitochondrial
    complex I deficiency), full gene sequence NIPA1
    (non-imprinted in Prader-Willi/Angelman syndrome
    1) (eg, spastic paraplegia), full gene sequence
    NLGN4X (neuroligin 4, X-linked) (eg, autism
    spectrum disorders), duplication/deletion analysis
    NPC2 (Niemann-Pick disease, type C2 [epididymal
    secretory protein E1]) (eg, Niemann-Pick disease
    type C2), full gene sequence NR0B1 (nuclear
    receptor subfamily 0, group B, member 1) (eg,
    congenital adrenal hypoplasia), full gene sequence
    PDX1 (pancreatic and duodenal homeobox 1) (eg,
    maturity-onset diabetes of the young [MODY]), full
    gene sequence PHOX2B (paired-like homeobox 2b)
    (eg, congenital central hypoventilation syndrome),
    full gene sequence PIK3CA
    (phosphatidylinositol-4,5-bisphosphate 3-kinase,
    catalytic subunit alpha) (eg, colorectal cancer),
    targeted sequence analysis (eg, exons 9 and 20)
    PLP1 (proteolipid protein 1) (eg,
    Pelizaeus-Merzbacher disease, spastic paraplegia),
    duplication/deletion analysis PQBP1 (polyglutamine
    binding protein 1) (eg, Renpenning syndrome),
    duplication/deletion analysis PRNP (prion protein)
    (eg, genetic prion disease), full gene sequence
    PROP1 (PROP paired-like homeobox 1) (eg, combined
    pituitary hormone deficiency), full gene sequence
    PRPH2 (peripherin 2 [retinal degeneration, slow])
    (eg, retinitis pigmentosa), full gene sequence
    PRSS1 (protease, serine, 1 [trypsin 1]) (eg,
    hereditary pancreatitis), full gene sequence RAF1
    (v-raf-1 murine leukemia viral oncogene homolog 1)
    (eg, LEOPARD syndrome), targeted sequence analysis
    (eg, exons 7, 12, 14, 17) RET (ret proto-oncogene)
    (eg, multiple endocrine neoplasia, type 2B and
    familial medullary thyroid carcinoma), common
    variants (eg, M918T, 2647_2648delinsTT, A883F) RHO
    (rhodopsin) (eg, retinitis pigmentosa), full gene
    sequence RP1 (retinitis pigmentosa 1) (eg,
    retinitis pigmentosa), full gene sequence SCN1B
    (sodium channel, voltage-gated, type I, beta) (eg,
    Brugada syndrome), full gene sequence SCO2 (SCO
    cytochrome oxidase deficient homolog 2 [SCO1L])
    (eg, mitochondrial respiratory chain complex IV
    deficiency), full gene sequence SDHC (succinate
    dehydrogenase complex, subunit C, integral
    membrane protein, 15kDa) (eg, hereditary
    paraganglioma-pheochromocytoma syndrome),
    duplication/deletion analysis SDHD (succinate
    dehydrogenase complex, subunit D, integral
    membrane protein) (eg, hereditary paraganglioma),
    full gene sequence SGCG (sarcoglycan, gamma [35kDa
    dystrophin-associated glycoprotein]) (eg,
    limb-girdle muscular dystrophy),
    duplication/deletion analysis SH2D1A (SH2 domain
    containing 1A) (eg, X-linked lymphoproliferative
    syndrome), full gene sequence SLC16A2 (solute
    carrier family 16, member 2 [thyroid hormone
    transporter]) (eg, specific thyroid hormone cell
    transporter deficiency, Allan-Herndon-Dudley
    syndrome), duplication/deletion analysis SLC25A20
    (solute carrier family 25 [carnitine/acylcarnitine
    translocase], member 20) (eg,
    carnitine-acylcarnitine translocase deficiency),
    duplication/deletion analysis SLC25A4 (solute
    carrier family 25 [mitochondrial carrier; adenine
    nucleotide translocator], member 4) (eg,
    progressive external ophthalmoplegia), full gene
    sequence SOD1 (superoxide dismutase 1, soluble)
    (eg, amyotrophic lateral sclerosis), full gene
    sequence SPINK1 (serine peptidase inhibitor, Kazal
    type 1) (eg, hereditary pancreatitis), full gene
    sequence STK11 (serine/threonine kinase 11) (eg,
    Peutz-Jeghers syndrome), duplication/deletion
    analysis TACO1 (translational activator of
    mitochondrial encoded cytochrome c oxidase I) (eg,
    mitochondrial respiratory chain complex IV
    deficiency), full gene sequence THAP1 (THAP domain
    containing, apoptosis associated protein 1) (eg,
    torsion dystonia), full gene sequence TOR1A
    (torsin family 1, member A [torsin A]) (eg,
    torsion dystonia), full gene sequence TP53 (tumor
    protein 53) (eg, tumor samples), targeted sequence
    analysis of 2-5 exons TTPA (tocopherol [alpha]
    transfer protein) (eg, ataxia), full gene sequence
    TTR (transthyretin) (eg, familial transthyretin
    amyloidosis), full gene sequence TWIST1 (twist
    homolog 1 [Drosophila]) (eg, Saethre-Chotzen
    syndrome), full gene sequence TYR (tyrosinase
    [oculocutaneous albinism IA]) (eg, oculocutaneous
    albinism IA), full gene sequence USH1G (Usher
    syndrome 1G [autosomal recessive]) (eg, Usher
    syndrome, type 1), full gene sequence VHL (von
    Hippel-Lindau tumor suppressor) (eg, von
    Hippel-Lindau familial cancer syndrome), full gene
    sequence VWF (von Willebrand factor) (eg, von
    Willebrand disease type 1C), targeted sequence
    analysis (eg, exons 26, 27, 37) ZEB2 (zinc finger
    E-box binding homeobox 2) (eg, Mowat-Wilson
    syndrome), duplication/deletion analysis ZNF41
    (zinc finger protein 41) (eg, X-linked mental
    retardation 89), full gene sequence
81405    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) ABCD1 (ATP-binding cassette,
    sub-family D [ALD], member 1) (eg,
    adrenoleukodystrophy), full gene sequence ACADS
    (acyl-CoA dehydrogenase, C-2 to C-3 short chain)
    (eg, short chain acyl-CoA dehydrogenase
    deficiency), full gene sequence ACTA2 (actin,
    alpha 2, smooth muscle, aorta) (eg, thoracic
    aortic aneurysms and aortic dissections), full
    gene sequence ACTC1 (actin, alpha, cardiac muscle
    1) (eg, familial hypertrophic cardiomyopathy),
    full gene sequence ANKRD1 (ankyrin repeat domain
    1) (eg, dilated cardiomyopathy), full gene
    sequence APTX (aprataxin) (eg, ataxia with
    oculomotor apraxia 1), full gene sequence ARSA
    (arylsulfatase A) (eg, arylsulfatase A
    deficiency), full gene sequence BCKDHA (branched
    chain keto acid dehydrogenase E1, alpha
    polypeptide) (eg, maple syrup urine disease, type
    1A), full gene sequence BCS1L (BCS1-like [S.
    cerevisiae]) (eg, Leigh syndrome, mitochondrial
    complex III deficiency, GRACILE syndrome), full
    gene sequence BMPR2 (bone morphogenetic protein
    receptor, type II [serine/threonine kinase]) (eg,
    heritable pulmonary arterial hypertension),
    duplication/deletion analysis CASQ2 (calsequestrin
    2 [cardiac muscle]) (eg, catecholaminergic
    polymorphic ventricular tachycardia), full gene
    sequence CASR (calcium-sensing receptor) (eg,
    hypocalcemia), full gene sequence CDKL5
    (cyclin-dependent kinase-like 5) (eg, early
    infantile epileptic encephalopathy),
    duplication/deletion analysis CHRNA4 (cholinergic
    receptor, nicotinic, alpha 4) (eg, nocturnal
    frontal lobe epilepsy), full gene sequence CHRNB2
    (cholinergic receptor, nicotinic, beta 2
    [neuronal]) (eg, nocturnal frontal lobe epilepsy),
    full gene sequence COX10 (COX10 homolog,
    cytochrome c oxidase assembly protein) (eg,
    mitochondrial respiratory chain complex IV
    deficiency), full gene sequence COX15 (COX15
    homolog, cytochrome c oxidase assembly protein)
    (eg, mitochondrial respiratory chain complex IV
    deficiency), full gene sequence CPOX
    (coproporphyrinogen oxidase) (eg, hereditary
    coproporphyria), full gene sequence CTRC
    (chymotrypsin C) (eg, hereditary pancreatitis),
    full gene sequence CYP11B1 (cytochrome P450,
    family 11, subfamily B, polypeptide 1) (eg,
    congenital adrenal hyperplasia), full gene
    sequence CYP17A1 (cytochrome P450, family 17,
    subfamily A, polypeptide 1) (eg, congenital
    adrenal hyperplasia), full gene sequence CYP21A2
    (cytochrome P450, family 21, subfamily A,
    polypeptide2) (eg, steroid 21-hydroxylase isoform,
    congenital adrenal hyperplasia), full gene
    sequence Cytogenomic constitutional targeted
    microarray analysis of chromosome 22q13 by
    interrogation of genomic regions for copy number
    and single nucleotide polymorphism (SNP) variants
    for chromosomal abnormalities (When performing
    genome-wide cytogenomic constitutional microarray
    analysis, see 81228, 81229) (Do not report
    analyte-specific molecular pathology procedures
    separately when the specific analytes are included
    as part of the microarray analysis of chromosome
    22q13) (Do not report 88271 when performing
    cytogenomic microarray analysis) DBT
    (dihydrolipoamide branched chain transacylase E2)
    (eg, maple syrup urine disease, type 2),
    duplication/deletion analysis DCX (doublecortin)
    (eg, X-linked lissencephaly), full gene sequence
    DES (desmin) (eg, myofibrillar myopathy), full
    gene sequence DFNB59 (deafness, autosomal
    recessive 59) (eg, autosomal recessive
    nonsyndromic hearing impairment), full gene
    sequence DGUOK (deoxyguanosine kinase) (eg,
    hepatocerebral mitochondrial DNA depletion
    syndrome), full gene sequence DHCR7
    (7-dehydrocholesterol reductase) (eg,
    Smith-Lemli-Opitz syndrome), full gene sequence
    EIF2B2 (eukaryotic translation initiation factor
    2B, subunit 2 beta, 39kDa) (eg,
    leukoencephalopathy with vanishing white matter),
    full gene sequence EMD (emerin) (eg,
    Emery-Dreifuss muscular dystrophy), full gene
    sequence ENG (endoglin) (eg, hereditary
    hemorrhagic telangiectasia, type 1),
    duplication/deletion analysis EYA1 (eyes absent
    homolog 1 [Drosophila]) (eg, branchio-oto-renal
    [BOR] spectrum disorders), duplication/deletion
    analysis FGFR1 (fibroblast growth factor receptor
    1) (eg, Kallmann syndrome 2), full gene sequence
    FH (fumarate hydratase) (eg, fumarate hydratase
    deficiency, hereditary leiomyomatosis with renal
    cell cancer), full gene sequence FKTN (fukutin)
    (eg, limb-girdle muscular dystrophy [LGMD] type 2M
    or 2L), full gene sequence FTSJ1 (FtsJ RNA
    methyltransferase homolog 1 [E. coli]) (eg,
    X-linked mental retardation 9),
    duplication/deletion analysis GABRG2
    (gamma-aminobutyric acid [GABA] A receptor, gamma
    2) (eg, generalized epilepsy with febrile
    seizures), full gene sequence GCH1 (GTP
    cyclohydrolase 1) (eg, autosomal dominant
    dopa-responsive dystonia), full gene sequence
    GDAP1 (ganglioside-induced
    differentiation-associated protein 1) (eg,
    Charcot-Marie-Tooth disease), full gene sequence
    GFAP (glial fibrillary acidic protein) (eg,
    Alexander disease), full gene sequence GHR (growth
    hormone receptor) (eg, Laron syndrome), full gene
    sequence GHRHR (growth hormone releasing hormone
    receptor) (eg, growth hormone deficiency), full
    gene sequence GLA (galactosidase, alpha) (eg,
    Fabry disease), full gene sequence HNF1A (HNF1
    homeobox A) (eg, maturity-onset diabetes of the
    young [MODY]), full gene sequence HNF1B (HNF1
    homeobox B) (eg, maturity-onset diabetes of the
    young [MODY]), full gene sequence HTRA1 (HtrA
    serine peptidase 1) (eg, macular degeneration),
    full gene sequence IDS (iduronate 2-sulfatase)
    (eg, mucopolysacchridosis, type II), full gene
    sequence IL2RG (interleukin 2 receptor, gamma)
    (eg, X-linked severe combined immunodeficiency),
    full gene sequence ISPD (isoprenoid synthase
    domain containing) (eg, muscle-eye-brain disease,
    Walker-Warburg syndrome), full gene sequence KRAS
    (Kirsten rat sarcoma viral oncogene homolog) (eg,
    Noonan syndrome), full gene sequence LAMP2
    (lysosomal-associated membrane protein 2) (eg,
    Danon disease), full gene sequence LDLR (low
    density lipoprotein receptor) (eg, familial
    hypercholesterolemia), duplication/deletion
    analysis MEN1 (multiple endocrine neoplasia I)
    (eg, multiple endocrine neoplasia type 1, Wermer
    syndrome), full gene sequence MMAA (methylmalonic
    aciduria [cobalamine deficiency] type A) (eg,
    MMAA-related methylmalonic acidemia), full gene
    sequence MMAB (methylmalonic aciduria [cobalamine
    deficiency] type B) (eg, MMAA-related
    methylmalonic acidemia), full gene sequence MPI
    (mannose phosphate isomerase) (eg, congenital
    disorder of glycosylation 1b), full gene sequence
    MPV17 (MpV17 mitochondrial inner membrane protein)
    (eg, mitochondrial DNA depletion syndrome), full
    gene sequence MPZ (myelin protein zero) (eg,
    Charcot-Marie-Tooth), full gene sequence MTM1
    (myotubularin 1) (eg, X-linked centronuclear
    myopathy), duplication/deletion analysis MYL2
    (myosin, light chain 2, regulatory, cardiac, slow)
    (eg, familial hypertrophic cardiomyopathy), full
    gene sequence MYL3 (myosin, light chain 3, alkali,
    ventricular, skeletal, slow) (eg, familial
    hypertrophic cardiomyopathy), full gene sequence
    MYOT (myotilin) (eg, limb-girdle muscular
    dystrophy), full gene sequence NDUFS7 (NADH
    dehydrogenase [ubiquinone] Fe-S protein 7, 20kDa
    [NADH-coenzyme Q reductase]) (eg, Leigh syndrome,
    mitochondrial complex I deficiency), full gene
    sequence NDUFS8 (NADH dehydrogenase [ubiquinone]
    Fe-S protein 8, 23kDa [NADH-coenzyme Q reductase])
    (eg, Leigh syndrome, mitochondrial complex I
    deficiency), full gene sequence NDUFV1 (NADH
    dehydrogenase [ubiquinone] flavoprotein 1, 51kDa)
    (eg, Leigh syndrome, mitochondrial complex I
    deficiency), full gene sequence NEFL
    (neurofilament, light polypeptide) (eg,
    Charcot-Marie-Tooth), full gene sequence NF2
    (neurofibromin 2 [merlin]) (eg, neurofibromatosis,
    type 2), duplication/deletion analysis NLGN3
    (neuroligin 3) (eg, autism spectrum disorders),
    full gene sequence NLGN4X (neuroligin 4, X-linked)
    (eg, autism spectrum disorders), full gene
    sequence NPHP1 (nephronophthisis 1 [juvenile])
    (eg, Joubert syndrome), deletion analysis, and
    duplication analysis, if performed NPHS2
    (nephrosis 2, idiopathic, steroid-resistant
    [podocin]) (eg, steroid-resistant nephrotic
    syndrome), full gene sequence NSD1 (nuclear
    receptor binding SET domain protein 1) (eg, Sotos
    syndrome), duplication/deletion analysis OTC
    (ornithine carbamoyltransferase) (eg, ornithine
    transcarbamylase deficiency), full gene sequence
    PAFAH1B1 (platelet-activating factor
    acetylhydrolase 1b, regulatory subunit 1 [45kDa])
    (eg, lissencephaly, Miller-Dieker syndrome),
    duplication/deletion analysis PARK2 (Parkinson
    protein 2, E3 ubiquitin protein ligase [parkin])
    (eg, Parkinson disease), duplication/deletion
    analysis PCCA (propionyl CoA carboxylase, alpha
    polypeptide) (eg, propionic acidemia, type 1),
    duplication/deletion analysis PCDH19
    (protocadherin 19) (eg, epileptic encephalopathy),
    full gene sequence PDHA1 (pyruvate dehydrogenase
    [lipoamide] alpha 1) (eg, lactic acidosis),
    duplication/deletion analysis PDHB (pyruvate
    dehydrogenase [lipoamide] beta) (eg, lactic
    acidosis), full gene sequence PINK1 (PTEN induced
    putative kinase 1) (eg, Parkinson disease), full
    gene sequence PKLR (pyruvate kinase, liver and
    RBC) (eg, pyruvate kinase deficiency), full gene
    sequence PLP1 (proteolipid protein 1) (eg,
    Pelizaeus-Merzbacher disease, spastic paraplegia),
    full gene sequence POU1F1 (POU class 1 homeobox 1)
    (eg, combined pituitary hormone deficiency), full
    gene sequence PRX (periaxin) (eg,
    Charcot-Marie-Tooth disease), full gene sequence
    PQBP1 (polyglutamine binding protein 1) (eg,
    Renpenning syndrome), full gene sequence PSEN1
    (presenilin 1) (eg, Alzheimer disease), full gene
    sequence RAB7A (RAB7A, member RAS oncogene family)
    (eg, Charcot-Marie-Tooth disease), full gene
    sequence RAI1 (retinoic acid induced 1) (eg,
    Smith-Magenis syndrome), full gene sequence REEP1
    (receptor accessory protein 1) (eg, spastic
    paraplegia), full gene sequence RET (ret
    proto-oncogene) (eg, multiple endocrine neoplasia,
    type 2A and familial medullary thyroid carcinoma),
    targeted sequence analysis (eg, exons 10, 11,
    13-16) RPS19 (ribosomal protein S19) (eg,
    Diamond-Blackfan anemia), full gene sequence RRM2B
    (ribonucleotide reductase M2 B [TP53 inducible])
    (eg, mitochondrial DNA depletion), full gene
    sequence SCO1 (SCO cytochrome oxidase deficient
    homolog 1) (eg, mitochondrial respiratory chain
    complex IV deficiency), full gene sequence SDHB
    (succinate dehydrogenase complex, subunit B, iron
    sulfur) (eg, hereditary paraganglioma), full gene
    sequence SDHC (succinate dehydrogenase complex,
    subunit C, integral membrane protein, 15kDa) (eg,
    hereditary paraganglioma-pheochromocytoma
    syndrome), full gene sequence SGCA (sarcoglycan,
    alpha [50kDa dystrophin-associated glycoprotein])
    (eg, limb-girdle muscular dystrophy), full gene
    sequence SGCB (sarcoglycan, beta [43kDa
    dystrophin-associated glycoprotein]) (eg,
    limb-girdle muscular dystrophy), full gene
    sequence SGCD (sarcoglycan, delta [35kDa
    dystrophin-associated glycoprotein]) (eg,
    limb-girdle muscular dystrophy), full gene
    sequence SGCE (sarcoglycan, epsilon) (eg,
    myoclonic dystonia), duplication/deletion analysis
    SGCG (sarcoglycan, gamma [35kDa
    dystrophin-associated glycoprotein]) (eg,
    limb-girdle muscular dystrophy), full gene
    sequence SHOC2 (soc-2 suppressor of clear homolog)
    (eg, Noonan-like syndrome with loose anagen hair),
    full gene sequence SHOX (short stature homeobox)
    (eg, Langer mesomelic dysplasia), full gene
    sequence SIL1 (SIL1 homolog, endoplasmic reticulum
    chaperone [S. cerevisiae]) (eg, ataxia), full gene
    sequence SLC2A1 (solute carrier family 2
    [facilitated glucose transporter], member 1) (eg,
    glucose transporter type 1 [GLUT 1] deficiency
    syndrome), full gene sequence SLC16A2 (solute
    carrier family 16, member 2 [thyroid hormone
    transporter]) (eg, specific thyroid hormone cell
    transporter deficiency, Allan-Herndon-Dudley
    syndrome), full gene sequence SLC22A5 (solute
    carrier family 22 [organic cation/carnitine
    transporter], member 5) (eg, systemic primary
    carnitine deficiency), full gene sequence SLC25A20
    (solute carrier family 25 [carnitine/acylcarnitine
    translocase], member 20) (eg,
    carnitine-acylcarnitine translocase deficiency),
    full gene sequence SMAD4 (SMAD family member 4)
    (eg, hemorrhagic telangiectasia syndrome, juvenile
    polyposis), duplication/deletion analysis SPAST
    (spastin) (eg, spastic paraplegia),
    duplication/deletion analysis SPG7 (spastic
    paraplegia 7 [pure and complicated autosomal
    recessive]) (eg, spastic paraplegia),
    duplication/deletion analysis SPRED1
    (sprouty-related, EVH1 domain containing 1) (eg,
    Legius syndrome), full gene sequence STAT3 (signal
    transducer and activator of transcription 3
    [acute-phase response factor]) (eg, autosomal
    dominant hyper-IgE syndrome), targeted sequence
    analysis (eg, exons 12, 13, 14, 16, 17, 20, 21)
    STK11 (serine/threonine kinase 11) (eg,
    Peutz-Jeghers syndrome), full gene sequence SURF1
    (surfeit 1) (eg, mitochondrial respiratory chain
    complex IV deficiency), full gene sequence TARDBP
    (TAR DNA binding protein) (eg, amyotrophic lateral
    sclerosis), full gene sequence TBX5 (T-box 5) (eg,
    Holt-Oram syndrome), full gene sequence TCF4
    (transcription factor 4) (eg, Pitt-Hopkins
    syndrome), duplication/deletion analysis TGFBR1
    (transforming growth factor, beta receptor 1) (eg,
    Marfan syndrome), full gene sequence TGFBR2
    (transforming growth factor, beta receptor 2) (eg,
    Marfan syndrome), full gene sequence THRB (thyroid
    hormone receptor, beta) (eg, thyroid hormone
    resistance, thyroid hormone beta receptor
    deficiency), full gene sequence or targeted
    sequence analysis of >5 exons TK2 (thymidine
    kinase 2, mitochondrial) (eg, mitochondrial DNA
    depletion syndrome), full gene sequence TNNC1
    (troponin C type 1 [slow]) (eg, hypertrophic
    cardiomyopathy or dilated cardiomyopathy), full
    gene sequence TNNI3 (troponin I, type 3 [cardiac])
    (eg, familial hypertrophic cardiomyopathy), full
    gene sequence TP53 (tumor protein 53) (eg,
    Li-Fraumeni syndrome, tumor samples), full gene
    sequence or targeted sequence analysis of >5 exons
    TPM1 (tropomyosin 1 [alpha]) (eg, familial
    hypertrophic cardiomyopathy), full gene sequence
    TSC1 (tuberous sclerosis 1) (eg, tuberous
    sclerosis), duplication/deletion analysis TYMP
    (thymidine phosphorylase) (eg, mitochondrial DNA
    depletion syndrome), full gene sequence VWF (von
    Willebrand factor) (eg, von Willebrand disease
    type 2N), targeted sequence analysis (eg, exons
    18-20, 23-25) WT1 (Wilms tumor 1) (eg, Denys-Drash
    syndrome, familial Wilms tumor), full gene
    sequence ZEB2 (zinc finger E-box binding homeobox
    2) (eg, Mowat-Wilson syndrome), full gene sequence
81407    Molecular pathology procedure, Level 8 (eg,
    analysis of 26-50 exons by DNA sequence analysis,
    mutation scanning or duplication/deletion variants
    of >50 exons, sequence analysis of multiple genes
    on one platform) ABCC8 (ATP-binding cassette,
    sub-family C [CFTR/MRP], member 8) (eg, familial
    hyperinsulinism), full gene sequence AGL
    (amylo-alpha-1, 6-glucosidase,
    4-alpha-glucanotransferase) (eg, glycogen storage
    disease type III), full gene sequence AHI1
    (Abelson helper integration site 1) (eg, Joubert
    syndrome), full gene sequence ASPM (asp [abnormal
    spindle] homolog, microcephaly associated
    [Drosophila]) (eg, primary microcephaly), full
    gene sequence CHD7 (chromodomain helicase DNA
    binding protein 7) (eg, CHARGE syndrome), full
    gene sequence COL4A4 (collagen, type IV, alpha 4)
    (eg, Alport syndrome), full gene sequence COL4A5
    (collagen, type IV, alpha 5) (eg, Alport
    syndrome), duplication/deletion analysis COL6A1
    (collagen, type VI, alpha 1) (eg, collagen type
    VI-related disorders), full gene sequence COL6A2
    (collagen, type VI, alpha 2) (eg, collagen type
    VI-related disorders), full gene sequence COL6A3
    (collagen, type VI, alpha 3) (eg, collagen type
    VI-related disorders), full gene sequence CREBBP
    (CREB binding protein) (eg, Rubinstein-Taybi
    syndrome), full gene sequence F8 (coagulation
    factor VIII) (eg, hemophilia A), full gene
    sequence JAG1 (jagged 1) (eg, Alagille syndrome),
    full gene sequence KDM5C (lysine [K]-specific
    demethylase 5C) (eg, X-linked mental retardation),
    full gene sequence KIAA0196 (KIAA0196) (eg,
    spastic paraplegia), full gene sequence L1CAM (L1
    cell adhesion molecule) (eg, MASA syndrome,
    X-linked hydrocephaly), full gene sequence LAMB2
    (laminin, beta 2 [laminin S]) (eg, Pierson
    syndrome), full gene sequence MYBPC3 (myosin
    binding protein C, cardiac) (eg, familial
    hypertrophic cardiomyopathy), full gene sequence
    MYH6 (myosin, heavy chain 6, cardiac muscle,
    alpha) (eg, familial dilated cardiomyopathy), full
    gene sequence MYH7 (myosin, heavy chain 7, cardiac
    muscle, beta) (eg, familial hypertrophic
    cardiomyopathy, Liang distal myopathy), full gene
    sequence MYO7A (myosin VIIA) (eg, Usher syndrome,
    type 1), full gene sequence NOTCH1 (notch 1) (eg,
    aortic valve disease), full gene sequence NPHS1
    (nephrosis 1, congenital, Finnish type [nephrin])
    (eg, congenital Finnish nephrosis), full gene
    sequence OPA1 (optic atrophy 1) (eg, optic
    atrophy), full gene sequence PCDH15
    (protocadherin-related 15) (eg, Usher syndrome,
    type 1), full gene sequence PKD1 (polycystic
    kidney disease 1 [autosomal dominant]) (eg,
    polycystic kidney disease), full gene sequence
    PLCE1 (phospholipase C, epsilon 1) (eg, nephrotic
    syndrome type 3), full gene sequence SCN1A (sodium
    channel, voltage-gated, type 1, alpha subunit)
    (eg, generalized epilepsy with febrile seizures),
    full gene sequence SCN5A (sodium channel,
    voltage-gated, type V, alpha subunit) (eg,
    familial dilated cardiomyopathy), full gene
    sequence SLC12A1 (solute carrier family 12
    [sodium/potassium/chloride transporters], member
    1) (eg, Bartter syndrome), full gene sequence
    SLC12A3 (solute carrier family 12 [sodium/chloride
    transporters], member 3) (eg, Gitelman syndrome),
    full gene sequence SPG11 (spastic paraplegia 11
    [autosomal recessive]) (eg, spastic paraplegia),
    full gene sequence SPTBN2 (spectrin, beta,
    non-erythrocytic 2) (eg, spinocerebellar ataxia),
    full gene sequence TMEM67 (transmembrane protein
    67) (eg, Joubert syndrome), full gene sequence
    TSC2 (tuberous sclerosis 2) (eg, tuberous
    sclerosis), full gene sequence USH1C (Usher
    syndrome 1C [autosomal recessive, severe]) (eg,
    Usher syndrome, type 1), full gene sequence VPS13B
    (vacuolar protein sorting 13 homolog B [yeast])
    (eg, Cohen syndrome), duplication/deletion
    analysis WDR62 (WD repeat domain 62) (eg, primary
    autosomal recessive microcephaly), full gene
    sequence
93279    Programming device evaluation (in person) with
    iterative adjustment of the implantable device to
    test the function of the device and select optimal
    permanent programmed values with analysis, review
    and report by a physician or other qualified
    health care professional; single lead pacemaker
    system or leadless pacemaker system in one cardiac
    chamber
93285    Programming device evaluation (in person) with
    iterative adjustment of the implantable device to
    test the function of the device and select optimal
    permanent programmed values with analysis, review
    and report by a physician or other qualified
    health care professional; subcutaneous cardiac
    rhythm monitor system
93286    Peri-procedural device evaluation (in person) and
    programming of device system parameters before or
    after a surgery, procedure, or test with analysis,
    review and report by a physician or other
    qualified health care professional; single, dual,
    or multiple lead pacemaker system, or leadless
    pacemaker system
93288    Interrogation device evaluation (in person) with
    analysis, review and report by a physician or
    other qualified health care professional, includes
    connection, recording and disconnection per
    patient encounter; single, dual, or multiple lead
    pacemaker system, or leadless pacemaker system
93290    Interrogation device evaluation (in person) with
    analysis, review and report by a physician or
    other qualified health care professional, includes
    connection, recording and disconnection per
    patient encounter; implantable cardiovascular
    physiologic monitor system, including analysis of
    1 or more recorded physiologic cardiovascular data
    elements from all internal and external sensors
93291    Interrogation device evaluation (in person) with
    analysis, review and report by a physician or
    other qualified health care professional, includes
    connection, recording and disconnection per
    patient encounter; subcutaneous cardiac rhythm
    monitor system, including heart rhythm derived
    data analysis
93294    Interrogation device evaluation(s) (remote), up to
    90 days; single, dual, or multiple lead pacemaker
    system, or leadless pacemaker system with interim
    analysis, review(s) and report(s) by a physician
    or other qualified health care professional
93296    Interrogation device evaluation(s) (remote), up to
    90 days; single, dual, or multiple lead pacemaker
    system, leadless pacemaker system, or implantable
    defibrillator system, remote data acquisition(s),
    receipt of transmissions and technician review,
    technical support and distribution of results
93297    Interrogation device evaluation(s), (remote) up to
    30 days; implantable cardiovascular physiologic
    monitor system, including analysis of 1 or more
    recorded physiologic cardiovascular data elements
    from all internal and external sensors, analysis,
    review(s) and report(s) by a physician or other
    qualified health care professional
93298    Interrogation device evaluation(s), (remote) up to
    30 days; subcutaneous cardiac rhythm monitor
    system, including analysis of recorded heart
    rhythm data, analysis, review(s) and report(s) by
    a physician or other qualified health care
    professional
93299    Interrogation device evaluation(s), (remote) up to
    30 days; implantable cardiovascular physiologic
    monitor system or subcutaneous cardiac rhythm
    monitor system, remote data acquisition(s),
    receipt of transmissions and technician review,
    technical support and distribution of results
94780    Car seat/bed testing for airway integrity, for
    infants through 12 months of age, with continual
    clinical staff observation and continuous
    recording of pulse oximetry, heart rate and
    respiratory rate, with interpretation and report;
    60 minutes
94781    Car seat/bed testing for airway integrity, for
    infants through 12 months of age, with continual
    clinical staff observation and continuous
    recording of pulse oximetry, heart rate and
    respiratory rate, with interpretation and report;
    each additional full 30 minutes (List separately
    in addition to code for primary procedure)
95970    Electronic analysis of implanted neurostimulator
    pulse generator/transmitter (eg, contact group[s],
    interleaving, amplitude, pulse width, frequency
    [Hz], on/off cycling, burst, magnet mode, dose
    lockout, patient selectable parameters, responsive
    neurostimulation, detection algorithms, closed
    loop parameters, and passive parameters) by
    physician or other qualified health care
    professional; with brain, cranial nerve, spinal
    cord, peripheral nerve, or sacral nerve,
    neurostimulator pulse generator/transmitter,
    without programming
95971    Electronic analysis of implanted neurostimulator
    pulse generator/transmitter (eg, contact group[s],
    interleaving, amplitude, pulse width, frequency
    [Hz], on/off cycling, burst, magnet mode, dose
    lockout, patient selectable parameters, responsive
    neurostimulation, detection algorithms, closed
    loop parameters, and passive parameters) by
    physician or other qualified health care
    professional; with simple spinal cord or
    peripheral nerve (eg, sacral nerve)
    neurostimulator pulse generator/transmitter
    programming by physician or other qualified health
    care professional
95972    Electronic analysis of implanted neurostimulator
    pulse generator/transmitter (eg, contact group[s],
    interleaving, amplitude, pulse width, frequency
    [Hz], on/off cycling, burst, magnet mode, dose
    lockout, patient selectable parameters, responsive
    neurostimulation, detection algorithms, closed
    loop parameters, and passive parameters) by
    physician or other qualified health care
    professional; with complex spinal cord or
    peripheral nerve (eg, sacral nerve)
    neurostimulator pulse generator/transmitter
    programming by physician or other qualified health
    care professional
96116    Neurobehavioral status exam (clinical assessment
    of thinking, reasoning and judgment, [eg, acquired
    knowledge, attention, language, memory, planning
    and problem solving, and visual spatial
    abilities]), by physician or other qualified
    health care professional, both face-to-face time
    with the patient and time interpreting test
    results and preparing the report; first hour
99091    Collection and interpretation of physiologic data
    (eg, ECG, blood pressure, glucose monitoring)
    digitally stored and/or transmitted by the patient
    and/or caregiver to the physician or other
    qualified health care professional, qualified by
    education, training, licensure/regulation (when
    applicable) requiring a minimum of 30 minutes of
    time, each 30 days
99446    Interprofessional telephone/Internet/electronic
    health record assessment and management service
    provided by a consultative physician, including a
    verbal and written report to the patient's
    treating/requesting physician or other qualified
    health care professional; 5-10 minutes of medical
    consultative discussion and review
99447    Interprofessional telephone/Internet/electronic
    health record assessment and management service
    provided by a consultative physician, including a
    verbal and written report to the patient's
    treating/requesting physician or other qualified
    health care professional; 11-20 minutes of medical
    consultative discussion and review
99448    Interprofessional telephone/Internet/electronic
    health record assessment and management service
    provided by a consultative physician, including a
    verbal and written report to the patient's
    treating/requesting physician or other qualified
    health care professional; 21-30 minutes of medical
    consultative discussion and review
99449    Interprofessional telephone/Internet/electronic
    health record assessment and management service
    provided by a consultative physician, including a
    verbal and written report to the patient's
    treating/requesting physician or other qualified
    health care professional; 31 minutes or more of
    medical consultative discussion and review
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