Forms and Documents
- Molecular confirmation of clinical diagnosis
- Development of appropriate evaluation and management plan
- Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
- Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
- Genetic counseling and recurrence risk assessmemt
- 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
- 783.43 Short stature, Growth failure, Growth retardation, Lack of growth, Physical retardation
- 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
- 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- Wessels et al., (2002) Clinical Dysmorphol 11(2):95–102.
- Paulussen et al., (2010) Hum Mutat 32:E2018-E2025.
- Ng et al., (2010) Nat Genet 42(9):790-793.
- Li et al., (2011) Hum Genet 130(6):715-724.
- Lederer et al., (2012) Am J Hum Genet 90:119-124.
- Hannibal et al., (2011) Am J Med Genet A 155(7): 1511-1516.