CPT Codes and ICD-9 Codes for Genetic Counseling Services & Related Services

Note: The following list of codes may apply to genetics clinics. Codes may change and be updated, please verify the applicability for individual patients.

ICD-9 coding classification system is used to describe diseases and operations, for physician reimbursement, hospital payments, quality review and benchmarking measurement

CPT® (Current Procedural Terminology) Codes, American Medical Association, descriptive terms and identifying codes for reporting medical services and procedures. The purpose of CPT is to provide a uniform language that accurately describes medical, surgical, and diagnostic services, and serves as an effective means for reliable nationwide communication among physicians, and other healthcare providers, patients, and third parties.

Genetic Counseling | Cancer | Chromosome | Congenital | Developmental | Hematology | Metabolic | Neurocutaneous | Neuromuscular | Prenatal | Skeletal | Symptoms, ill defined | Other | Lab | Office / Outpatient | Screening

Genetic Counseling / Counseling and/or Risk Factor Reduction

CPT Codes

Genetic counseling services include obtaining a structured family genetic history, pedigree construction, analysis for genetic risk assessment, counseling of the patient and family. One or more sessions may include a review of medical data and family information, face-to-face interviews, and counseling services. One time unit for every 30 minute of services provided face-to-face.

Office or Other Outpatient Medical Services - New Patient
99401 Preventative medicine counseling provided to an individual (~15 min) Office, other outpatient visit, new patient
99402 ~ 30 min
Level 2
99403 ~45 min
Level 3
99404 ~ 60 min
Level 4
99205 Level 5
Office or other outpatient medical services - Established patient

99411 Preventative medicine counseling in a group setting (per participant)
Office, other outpatient 99212 Level 2
99213 Level 3
99214 Level 4
99215 Level 5
99420 Administration and interpretation of health risk assessment

ICD-9 Codes

  • 655.2 Family History, hereditary disorder possibly affecting fetus (pregnant)
  • 655.3 Family history, hereditary disorder (pregnant)
  • 655.5 Maternal drug use
  • V16 codes (screening codes) - office consult
  • V18.9 Genetic disease carrier Family member is a carrier of a genetic disease FAMILY HISTORY: new code (Oct 2004)
  • V19.5 Family history, congenital anomalies (hereditary disease)
  • V26.3 genetic counseling for procreative management (prenatal or pre-pregnancy) counseling
  • V26.3 (screening) unaffected
  • V26.31 Testing of female for genetic disease carrier status (CARRIER SCREENING: new code Oct 2004)
  • (V26.32 other genetic testing of female)
  • V26.33 Genetic Counseling and testing CARRIER SCREENING: new code (Oct 2004)
  • V26.34 Testing of male for genetic disease carrier status
  • V26.35 Encounter for testing of male partner of habitual aborter (i.e., male partner of women with multiple miscarriages)
  • (V26.39 other genetic testing of male)
  • V29.3   Observation of newborn for suspected genetic/metabolic condition
  • V61.49 Concern (about increased risk, cancer, other genetic condition)
  • V77.6 screening, CF
  • V77.7 Screening, other inborn errors of metabolism
  • V82.7   Genetic screening
  • V82.71 Screening for genetic disease carrier status (i.e. direct DNA testing BRCA)
  • V82.79 other genetic screening (i.e. MSI)
  • V82.8 special screening other conditions
  • V83   Genetic carrier status
  • V83.8   Other genetic carrier status
  • V83.89   Other genetic carrier status
  • V84   Genetic susceptibility to disease
  • V84.0   Genetic susceptibility to malignant neoplasm
  • V84.01   Genetic susceptibility to malignant neoplasm, breast
  • V84.02   Genetic susceptibility to malignant neoplasm, ovary
  • V84.03   Genetic susceptibility to malignant neoplasm, prostate
  • V84.04   Genetic susceptibility to malignant neoplasm, endometrium
  • V84.09   Genetic susceptibility to other malignant neoplasm
  • V84.8   Genetic susceptibility to other disease

    Cancer / related codes

    CPT Codes

    ICD-9 Codes

  • 153.2   Malignant neoplasm of colon, at the descending portion
  • 153.9 Malignant neoplasm of colon, Primary Colon Cancer (or 153.8) (not polyps only)
  • 154 Malignant neoplasm of rectum, rectosigmoid junction, and anus
  • 154.1   Malignant neoplasm of rectum
  • 157   Malignant neoplasm of pancreas
  • 157.9   Malignant neoplasm of pancreas, unspecified
  • 172   Malignant melanoma of skin
  • 172.9 Malignant Melanoma ?
  • 173 Other malignant neoplasia of skin
  • 173.3 Other malignant neoplasia of skin (skin of other and unspecified parts of face, i.e. Gorlin basal cell carcinoma)
  • 173.5   Other malignant neoplasm of trunk (except scrotum)
  • 173.9   Other malignant neoplasm of skin, unspecified site
  • 174   Malignant neoplasm of female breast
  • 174.8 Malignant neoplasm of female breast (NEC)
  • 174.9 Breast Cancer Malignant neoplasm of female breast, unspecified (NOS)
  • 175.0   Malignant neoplasm of male breast, nipple and areola
  • 175.9   Malignant neoplasm of male breast, other or unspecified site
  • 179.0 Uterine Cancer, Malignant neoplasm of uterus, site unspecified
  • 180   Cervical cancer
  • 182   Uterine cancer
  • 183.0 Malignant Neoplasm, Ovary (currently affected)
  • 183.3   Malignant neoplasm of broad ligament
  • 185.0 Malignant Neoplasm, Prostate
  • 186   Malignant neoplasm of testis
  • 189.0 Renal Cell Carcinoma (kidney), Malignant neoplasm of kidney
  • 191   Malignant neoplasm of brain
  • 193   Malignant neoplasm of thyroid
  • 194.0   Malignant neoplasm of adrenal gland
  • 194.1   Malignant neoplasm of parathyroid gland
  • 194.3   Malignancy of pituitary gland and craniopharyngeal duct
  • 194.5   Malignant neoplasm of carotid body
  • 199   Malignant neoplasm, without specific site
  • 211.3 Polyposis Colon Adenomatous, or FAP (current dx of benign neoplasm of large intestine, familial polyposis)
  • 236.2   Neoplasm of uncertain behavior: ovary (gonadoblastoma)
  • 256.4 Polycystic ovarian disease
  • 258.0 Multiple Endocrine Neoplasia
  • 575.8 Gallbladder, other specific diagnosis
  • 577.2 Pancreas (cyst, pseudocyst)
  • 608.89 Scrotal mass
  • 610.1 Fibrocystic Breast Disease
  • 626.0 Amenorrhea
  • 655.2 (Hereditary Disorder) women who are pregnant
  • 758.3 Li Fraumeni (autosomal deletion syndrome)
  • 759.6 Von Hippel Lindau (other hamartoses, cerebelloretinal hemangioblastomatosis, Peutz-Jeghers, Sturge-Weber, retinocerebral angiomatosis)
  • 789.07 Generalized abdominal pain
  • 789.09 Abdominal pain, other specified site
  • 759.6 hemangioblastoma
  • V10.3   History of breast cancer
  • V16.3   Family history of breast cancer
  • V76.10   Screening for breast cancer, unspecified
  • V84.01   Genetic susceptibility to malignant neoplasm, breast

    V Codes

    Chromosomal Conditions & Related dx

    279.11  DiGeorge Syndrome
    758    Chromosomal Anomalies (V19.5 with family history)
    758.0   Trisomy 21 (Down Syndrome)
    758.1   Trisomy 13 (Patau Syndrome) arhinencephaly
    758.2   Trisomy 18 (Edward Syndrome) arrhinencephaly
    758.3   Autosomal deletion syndrome
    758.31  Cri-du-Chat
    758.32   Velo-cardio-facial syndrome
    758.33   Other microdeletions
    758.39   Other autosomal deletions
    758.4   Balanced autosomal translocation in normal individual
    758.5   Other conditions due to autosomal anomalies
    758.6   Turner Syndrome / Gonadal Dysgenesis
    758.7   Klinefelter Syndrome
    758.8   Other conditions due to chromosome anomalies
    758.81  Other conditions due to sex chromosome anomaly
    758.89   Other conditions due to chromosome anomalies
    758.9   Conditions due to unspecified chromosome anomaly
    759.81  Prader-Willi Syndrome
    759.83  Fragile X syndrome
    759.9   Congenital anomaly, unspecified
    795.2   Nonspecific abnormality on chromosomal analysis

    626.0 Amenorrhea

    CHROMOSOMAL ANOMALIES: archaic terminology updated, and new codes October 1, 2004 758.3 Autosomal deletion syndromes
    758.31 Cri-du-chat syndrome
    758.32 Velocardiofacial syndrome
    758.33 Other microdeletions (specifically list Smith-Magenis and Miller-Dieker)
    758.39 Other autosomal deletions

    Congenital Anomalies (740-759)

    740 Anencephalus and similar anomalies
    741 Spina bifida
    742 Other congenital anomalies of nervous system
    742.1 Microcephaly
    743 Congenital anomalies of eye (743.0 anopthalmos, 743.45 aniridia)
    744 Congenital anomalies of ear, face, and neck
    745 Bulbus cordis and cardiac septal closure anomalies
    746 Other congenital anomalies of heart
    747 Other congenital anomalies of circulatory system
    748 Congenital anomalies of respiratory system
    749 Cleft palate and cleft lip
    750 Other congenital anomalies of upper alimentary tract
    751 Other congenital anomalies of digestive system
    752 Congenital anomalies of genital organs
    753 Congenital anomalies of urinary system
    754 Congenital musculoskeletal deformities
    755 Other congenital anomalies of limbs
    756 Other congenital musculoskeletal anomalies
    757 Congenital anomalies of the integument
    758 Chromosomal anomalies

    759 Other and unspecified congenital anomalies
    759.3 Situs inversus
    759.7 Congenital Syndrome
    759.81 Prader-Willi Syndrome / Angelman syndrome
    759.82 Marfan Syndrome
    759.83 Fragile-X Syndrome
    759.89 Other (Congenital malformation syndromes affecting multiple systems, not elsewhere classified (i.e., Laurance-Moon-Biedl syndrome)
    759.9 Congenital anomaly, unspecified
    783.4 Developmental Delay

    OTHER AND UNSPECIFIED CONGENITAL ANOMALIES: new indexing to current codes Oct. 1, 2004

    759.89 Other specified congenital anomaly (Angelman, Cornelia de Lange)
    759.89 CHARGE association/syndrome
    757.33 Incontinentia pigmenti
    759.89 Kabuki syndrome
    759.89 Noonan syndrome
    759.89 Oculo-auriculo-vertebral syndrome
    756.0 Stickler syndrome

    Other diagnoses

    253.0 Sotos Syndrome
    279.11 DiGeorge Syndrome

    759.83 Fragile X syndrome
    648.53 Tinnitus
    759.7 Undiagnosed / unknown syndrome (multiple congenital anomalies, so described)
    796.4 Dysmorphic syndrome (other nonspecific abnormal clinical findings)
    279.43 Autoimmune disorder, not specified

    Developmental Disorders

    299.0   Autism, current infantile or childhood
    299.8 Other specified pervasive developmental disorders (Asperger)
    314.0 Attention deficit disorder
    314.01 Attention deficit disorder, with hyperactivity
    315.31 Developmental language disorder
    315.32 Receptive language disorder (mixed)
    315.4   Coordination disorder
    315.5   Mixed developmental disorder
    317     Mild mental retardation
    318     Moderate mental retardation
    318.1   Severe mental retardation
    318.2   Profound mental retardation
    319     Unspecified mental retardation
    389.9   Deafness, Unspecified hearing loss
    629.8   Female genital organs, other, unspecified
    759.5   Tuberous sclerosis
    759.89 Smith Lemli Opitz (cerebrohepatorenal syndrome)
    759.81 Prader Willi
    783.40   Delayed milestones (lack of expected normal physiologic development, unspecified)

    Hematologic conditions

    282.4 Alpha thalassemia (thalassemias)
    282.4 Beta thalassemia (thalassemias)
    282.2 G6PD deficiency (anemias, glutathione metabolism disorders)
    286.0 Hemophilia A (Congenital factor VIII disorder)
    286.1 Hemophilia B (congenital factor IX disorder)
    282.1 Hereditary elliptocytosis
    282.0 Hereditary spherocytosis
    282.61 Sickle cell anemia (Hb SS) without crisis
    282.62 Sickle cell anemia (Hb SS) with crisis
    282.63 Sickle cell disease (Hb SC)
    282.4 Sickle cell / thalassemia (thalassemias)
    282.5 Sickle cell trait
    282.7 Other hemoglobin
    286.4 Von Willebrand disease

    Metabolic conditions

    273.4 Alpha-1 antitrypsin deficiency (other deficiencies of circulating enzymes)
    277.0 Cystic fibrosis (without meconium ileus), with 277.01
    271.1 Glactosemia
    272.7 Gaucher (lipidoses)
    275.0 Hemochromatosis (disorders of iron metabolism)
    277.1 Disorders of porphyrin metabolism
    277.5 Hunter syndrome (mucopolysaccharidosis)
    277.5 Hurler (mucopolysaccharidosis)
    277.6 Other deficiencies of circulating enzymes
    330.0 Krabbe disease (leukodystrophy)
    330.8 Leigh disease (other specified cerebral degeneration - child)
    277.2 Lesch-Nyhan (other disorders of purine and pyrimidine metabolism)
    330.0 Metachromatic leukodystrophy (leukodystrophy)
    272.7 Niemann-Pick (lipidoses)
    270.1 PKU (phenylketonuria)
    330.1 Tay Sachs (cerebral lipidoses)
    275.1 Wilson disease (disorders of copper metabolism)

    448.0   Hereditary hemorrhagic telangiectasia

  • V17.6 Family History of chronic respiratory disease - other

    METABOLIC: new codes October 1, 2004 277.85 Disorders of fatty acid oxidation metabolism - Carnitine palmitoyltransferase deficiencies (CPT1, 2)
    Glutaric aciduria type II (type IIA, IIB, IIC)
    Long chain/very long chain acyl CoA dehydrogenase deficiency (LCHAD)
    Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
    Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
    Excludes: 277.81 Primary carnitine deficiencies 277.86

    Disorders of peroxisomal metabolism new codes October 1, 2004
    Infantile Refsum disease
    Neonatal adrenoleukodystrophy
    Rhizomelic chondrodysplasia punctata
    X-linked adrenoleukodystrophy
    Zellweger syndrome

    277.87 Disorders of mitochondrial metabolism
    Kearns-Sayre syndrome
    Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS syndrome)
    Myoclonus with epilepsy and with ragged red fibers (MERRF syndrome)
    Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE)
    Neuropathy, ataxia and retinitis pigmentosa (MARP syndrome)

    271.8 Disorders of pyruvate metabolism
    377.16 Leber optic atrophy
    330.8 Leigh subacute necrotizing encephalopathy
    331.81 Reye syndrome
    796.6 Abnormal findings on neonatal screening
    Excludes: Nonspecific serological evidence of HIV

    Neurocutaneous Conditions

    237.71   Neurofibromatosis, Type I
    237.72   Neurofibromatosis, Type II
    759.5 Tuberous sclerosis

    Neuromuscular Conditions

    290.10 Presenile dementia
    334.8 Ataxia telangiectasia (other spinocerebellar diseases)
    356.1 Charcot Marie Tooth Disease (peroneal muscular atrophy)
    359.1 Duchenne / Becker Muscular dystrophy (hereditary progressive muscular dystrophy)
    359.1 Facioscapulohumeral (FSHMD) (hereditary progressive muscular dystrophy)
    359.1 Limb Girdle MD (hereditary progressive muscular dystrophy)
    334.0 Friedreich Ataxia
    333.4 Huntington disease
    359.8 Mitochondrial myopathy (other myopathies)
    359.2 Myotonic dystrophy (myotonic disorders)
    359.1 OPMD (Hereditary progressive muscular dystrophy)
    335.0 Spinomuscular atrophy, type I (Werdnig-Hoffmann disease)
    335.11 Spinomuscular atrophy, type II (Kugelberg-Welander disease)
    335.19 Spinomuscular atrophy, type III (other spinal muscular atrophy)
    334.2 SCA (primary cerebellar degeneration) 

    Skeletal / Connective Tissue Disorders

    756.0   Craniosynostosis (anomalies of skull and facial bones)
    756.4   Achondroplasia (chondrodystrophy)
    756.51 Osteogenesis imperfecta
    756.56 Multiple epiphyseal dysplasia
    756.83 Ehlers-Danlos
    759.82 Marfan Syndrome
    783.4   Short Stature (lack of expected normal physiologic development)

    Prenatal Diagnosis Clinic

    655.1Fetal Chromosomal Abnormality, known or suspected
    655.12  Chromosome Abnormality in fetus ("2" added for delivered with mention of postpartum complication)
    655.13  Chromosome Abnormality in Fetus ("3" added for antepartum)
    655.10  Unspecified
    655.83 Amnionic band sequence

    655.9Known or suspected fetal anomaly
    659.5 Elderly primigravida (advanced maternal age, first pregnancy)
    659.6 Elderly multigravida (advanced maternal age, second or greater pregnancy)
    793.6 Abnormal findings, ultrasound

    Signs, Symptoms, and Ill-defined Conditions

    308.3 Other acute reactions to stress, including  acute situational disturbances
    795.2 Abnormal Chromosomal Analysis
    792.3 Abnormal findings, Amniotic Fluid
    634.90 Spontaneous Abortion (also code symptoms)
    637 Unspecified Abortion

    646.0  Repeated spontaneous abortus
    646.3  Repeated spontaneous abortus  (currently pregnant)

    646.83 Abnormal triple screen (primary)
    659.63 Abnormal findings on antenatal screen

    659.53 AMA (Advanced Maternal Age) Pregnancy

    Screening / Related Codes

    V23.0    Pregnancy with History of Infertility
    V23.5    Pregnancy with Poor Reproductive History (stillbirth, neonatal death)
    V23.8    Other High Risk Pregnancy
    V23.81   Elderly primigravida
    V23.82   Elderly multigravida
    V23.9    Unspecified High Risk Pregnancy
    V26.35   Encounter for testing of male partner of habitual aborter
    V26.4    Procreative Management - Genetic Counseling
    V28.0    Screen, Chromosome anomalies by amniocentesis
    V28.3    Screen, Fetal Malformation by ultrasound (also ultrasound high resolution fee)
    V28.1    Screen, alpha-fetoprotein on amniotic fluid
    Laboratory CPT Codes

    • Blood Draw / Phlebotomy 36415-002
    • Skin Biopsy 11100-007
    • HCG Quantitation 84702
    • ACHE 82012
    • MSAFP 82105
    • AFAFP 82106
    • Amino Acids Plasma 82130
    • Quantitative Estriol 82677
    • Hemoglobin Electrophoresis 83020
    • Nucleic Acid Probe (each) 83896
    • Nucleic Acid Probe w/Amplication (PCR) 83898
    • DNA Interpretation and Report 83912
    • Cancer Antigen Immunoassay 86316
    • Cell Culture, Lymphocytes 88230
    • Cell Culture, Tissue 88233
    • Cell Culture, Amnio/CVS 88235
    • Cell Culture, Bone Marrow 88237
    • Cell Culture, Other Tissue 88239
    • Blood Chromosomes, Bloom syndrome 88245
    • Blood Chromosomes, Fanconi syndrome 88248
    • Blood Chromosomes, Fra(X) 88250
    • Chromosome Analysis, 5 Cell, Karyotype 88261
    • Chromosome Analysis, Routine 88262
    • Chromosome Analysis, Post BMT 88262-22
    • Additional Tissue 88262-51
    • Chromosome Analysis, Mosaic 88263
    • Chromosome Analysis/Karyotype (Amnio) 88267
    • Chromosome Analysis/Karyotype (CVS) 88267-22
    • Chromosomal Analysis/Karyotype (In situ) 88269
    • Additional Karyotype 88280 Additional Banding 88283
    • Additional Cells Counted 88285
    • Additional High Resolution 88289
    • Handling Fee/Transfers To Lab (shipping) 99000
    • 88271 X 5 Molecular cytogenetics, DNA probe, each (code applied 5 times, once for each probe in the assay)
    • 88275 Interphase in situ hybridization, count 100-300 cells
    • 88291 Molecular cytogenetics, interpretation and report

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