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 / 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
CPT Codes
ICD-9 Codes
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
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
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
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
Adrenomyeloneuropathy
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)
Excludes:
271.8 Disorders of pyruvate metabolismNeurocutaneous Conditions
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
237.71
Neurofibromatosis,
Type I
237.72 Neurofibromatosis, Type II
759.5 Tuberous sclerosis
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)
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)
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
V23.0 Pregnancy with History of Infertility Revised
January 23, 2009
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