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Angelman syndrome (AS)
Angelman syndrome (AS) is a neurological disorder affecting both development and behavior. Individuals with Angelman syndrome exhibit cognitive delays, seizures, ataxia, absence of speech, and characteristic electroencephalogram (EEG) abnormalities. Developmental delay is commonly seen during the first year of life. Characteristic dysmorphic features in AS include a prominent chin, a small head circumference and a wide mouth with protruding tongue. These features are accompanied by behavioral abnormalities, such as sleep disorders and a happy demeanor with recurrent laughter, smiling and excitability. The presence and severity of these clinical features can vary among affected individuals. Similar to those with AS, individuals with Angelman-like syndrome also have mental retardation, ataxia, severe limitations in language and speech, a happy demeanor with frequent smiling or spontaneous laughter, epilepsy, and microcephaly.The X-linked Angelman-like syndrome is primarily found in males, but carrier females occasionally display a mild phenotype that may include learning disabilities
Piard et al., (2011) Am J Med Genet 155:3170-3173.
Beleza-Meireles et al., (2011) Eur J Med Genet 54:348-350.
Boyes L., et al. Eur J Med Genet. (2006) 49(6):472-80.
Hu et al., (2009) HUGO J 3:41-49.
Whibley et al., (2010) Am J Hum Genet 87:173-188.
Schroer R., et al. Am J Med Genet. (2009) 152A:2775-2783.
Russo, S., et al, (2000) Hum Mutan 15(4):387-393.
Clayton-Smith, J., et al (2003) J Med Genet 40(2):87-95.
Fang, P., et al, (1991) Hum Molec Genet 8(1):129-135.
Malzac, P., et al, (1998) Am J Hum Genet 62(6):1353-1360.
Gillfillan G et al., Am. J. Hum. Genet. 82(4): 1003-1010, 2008.
Christianson A et al. Am J. Hum Genet. 36:759-766, 1999.
Williams, C.A. and Dagli A.I. (Updated June 16, 2011). Angelman Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2009. Available at http://www.genetests.org
Lossie, A.C., et al, (2001) J Med Genet 38(12):834-845.
Hitchins, M.P., et al, (2004) Am J Med Genet 125A(2):167-172.
Boyes L., et al. Eur J Med Genet. (2006) 49(6):472-80
Fichou et al. European Journal of Human Genetics (2009) 17, 1378–1380
Clayton-Smith, J., et al (2003) J Med Genet 40(2):87-95
Russo, S., et al, (2000) Hum Mutan 15(4):387-393
Fang, P., et al, (1991) Hum Molec Genet 8(1):129-135
Hitchins, M.P., et al, (2004) Am J Med Genet 125A(2):167-172
Lossie, A.C., et al, (2001) J Med Genet 38(12):834-845
Dagli AI, Mueller J, Williams CA. Angelman Syndrome. 1998 Sep 15 [Updated 2015 May 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
Malzac, P., et al, (1998) Am J Hum Genet 62(6):1353-1360
Gillfillan G et al., Am. J. Hum. Genet. 82(4): 1003- 1010, 2008
Christianson A et al. Am J. Hum Genet. 36:759-766, 1999
Schroer R., et al. Am J Med Genet. (2009) 152A:2775-2783
To assist with decisions about treatment and management of individuals with epilepsy
Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs
81405x2, 81406x2, 81302x1, 81304x1, 81404x1
315.3 Developmental speech or language disorder
345.9 Epilepsy, unspecified [0-1] Epileptic convulsions, fits, or seizures NOS Recurrent seizures NOS Seizure disorder NOS Excludes: convulsion (convulsive) disorder (780.39) convulsive seizure or fit NOS (780.39) recurrent convulsions (780.39)
299 Pervasive developmental disorders
315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
Pong et al. (2011) Pediatric Neurology 44 (5):317-27 (PMID: 21481738)
Dyment et al. (2014) Clinical Genetics : (PMID: 25046240)
Michaud et al. (2014) Human Molecular Genetics 23 (18):4846-58 (PMID: 24781210)
Veeramah et al. (2013) Epilepsia 54 (7):1270-81 (PMID: 23647072)
Allen et al. (2013) Nature 501 (7466):217-21 (PMID: 23934111)
EuroEPINOMICS-RES et al. American Journal Of Human Genetics 95 (4):360-370 (PMID: 25262651)
Lee et al. (2014) Jama 312 (18):1880-7 (PMID: 25326637)
McKnight D, Retterer K, Juusola J, Brandt T, Richard G, and Suchy S, Genetic Testing Strategies for Patients with Epilepsy and Neurodevelopmental Disorders; (Abstract #562). Presented at the 2015 ACMG Annual Clinical Genetics Meeting, March 27, 2015, Salt