Forms and Documents
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 369 Blindness and low vision Excludes: correctable impaired vision due to refractive errors (367.0-367.9) Note: Visual impairment refers to a functional limitation of the eye (e.g., limited visual acuity or visual field). It should be distinguished from visual disability, indicating a limitation of the abilities of the individual (e.g., limited reading skills, vocational skills), and from visual handicap, indicating a limitation of personal and socioeconomic independence (e.g., limited mobility, limited employability). The levels of impairment defined in the table after 369.9 are based on the recommendations of the WHO Study Group on Prevention of Blindness (Geneva, November 6-10, 1972; WHO Technical Report Series 518), and of the International Council of Ophthalmology (1976). Note that definitions of blindness vary in different settings. For international reporting, WHO defines blindness as profound impairment. This definition can be applied to blindness of one eye (369.1, 369.6) and to blindness of the individual (369.0). For determination of benefits in the U.S.A., the definition of legal blindness as severe impairment is often used. This definition applies to blindness of the individual only.
- 345 Epilepsy and recurrent seizures The following fifth-digit subclassification is for use with categories 345.0, .1, .4-.9: 0 without mention of intractable epilepsy 1 with intractable epilepsy pharmacoresistant (pharmacologically resistant) poorly controlled treatment resistant refractory (medically) Excludes: hippocampal sclerosis (348.81) mesial temporal sclerosis (348.81) progressive myoclonic epilepsy (333.2) temporal sclerosis (348.81)
- 272.7 Lipidoses (Fabry Disease)
**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.
- Mole, S. and Williams, R. (Updated [March 2, 2010])Neuronal Ceroid-Lipofuscinoses. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.gene
- Hofmann et al., (2002) Curr Mol Med 2:423-437.
- Sleat et al., (1999) Am J Hum Genet 64:1511-1523.
- Zhong et al., (2000) Genet Med 2:312-318.