Forms and Documents
- Confirmation of a clinical diagnosis
- Carrier testing for individuals with a known familial TSC1 or TSC2 mutation
- Prenatal diagnosis in at-risk pregnancies
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 780.39 Other convulsions Convulsive disorder NOS Fits NOS Recurrent convulsions NOS Seizure NOS Seizures NOS
- 759.5 Tuberous sclerosis Bourneville's disease Epiloia
- 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.
- Northrup H, Koenig MK, Au KS. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2015 Sep 3]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet].
- Roach and Sparagano (2004) J Child Neurol 19:643-649.
- Rose et al., (1999) Am J Hum Genet 64:986-992. Qin et al., (2010) Hum Genet 127:573-582.
- Mayer et al., (2013) Eur J Hum Genet e1–e4; doi:10.1038/ejhg.2013.129.
- Kozlowski et al., (2007) Hum Genet 121:389-400.
- Jones et al., (1999) Am J Hum Genet 64:1305-1315.
- Dabora et al., (2001) Am J Hum Genet 68:64-80.
- Sancak et al., (2005) Eur J Hum Genet 13:731-741.
- Au et al., (2007) Genet Med 9:88-100.