Forms and Documents
Test Details
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
Ordering
Billing
- 272.7 Lipidoses (Fabry Disease)
- 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.
References
- Laitinen et al. (1997) Clinical Genetics 51 (3):174-8 (PMID: 9137882)
- Saarela et al. (2004) Human Mutation 24 (4):350-1 (PMID: 15365992)
- Fisher et al. (1991) The Journal Of Biological Chemistry 266 (18):12105-13 (PMID: 1904874)
- Saarela et al. (2001) Human Molecular Genetics 10 (9):983-95 (PMID: 11309371)
- Ikonen et al. (1991) Proceedings Of The National Academy Of Sciences Of The United States Of America 88 (24):11222-6 (PMID: 1722323)
- Jalanko et al. (1995) Human Molecular Genetics 4 (3):435-41 (PMID: 7795599)
- Ikonen et al. (1992) J. Biol. Chem. 267 (13):8715-8 (PMID: 1577713)
- Isoniemi et al. (1995) Hum. Mutat. 5 (4):318-26 (PMID: 7627186)
- Peltola et al. (1996) Hum. Mol. Genet. 5 (6):737-43 (PMID: 8776587)
- Arvio et al. (2016) Orphanet J Rare Dis 11 (1):162 (PMID: 27906067)
- Stenson et al. (2014) Human Genetics 133 (1):1-9 (PMID: 24077912)