GeneDx believes in responsible testing that is based on established medical guidelines, and we aim to be completely transparent with our pricing so that patients, clinicians, and payers know the cost of the test.
GeneDx is a world leader in genomics with an acknowledged expertise in rare and ultra-rare genetic disorders, as well as an unparalleled comprehensive genetic testing menu.
Our mission is to make clinical genetic testing available to patients and their families.
CDC (Centers for Disease Control and Prevention) (2014) Morbidity and Mortality Weekly Report 63(SS02) 1-21; www.cdc.gov/mmwr
Mefford et al., (2012) NEJM 366(8): 733-743 (PMID: 22356326)
Miller et al.., (2010) Am J Hum Genet 86(5): 749-64 (PMID 20466091)
Schaefer et al., (2013) Genet Med 15(5): 399-407 (PMID: 23519317)
Farwell et al. (2015) Genet. Med. 17 (7):578-86 (PMID: 25356970)
Lee et al. (2014) Jama 312 (18):1880-7 (PMID: 25326637)
Posey et al. (2015) Genet. Med. : (PMID: 26633545)
Retterer et al. (2015) Genet. Med. : (PMID: 26633542)
Wright et al. (2015) Lancet 385 (9975):1305-14 (PMID: 25529582)
Lopez-Rangel et al., (2008) Br J Dev Disabil 54: 69-82 (no PMID)
Fitzgerald et al. (2015) Nature 519 (7542):223-8 (PMID: 25533962)
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
Yang et al. (2014) JAMA 312 (18):1870-9 (PMID: 25326635)
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
Marshall CR et al., Am J Hum Genet. 2008; 82:477-88
Jacquemont ML et al., J Med Genet 2006; 43:843-849
Charman et al. Eur J Hum Genet 2005 13(10):1121-30
Carney et al., (2003) Pediatr Neurol 28:205-211
Scala et al., Am J Med Genet A. 2007; 43:2275-2784
Archer et al., J Med Genet 2006 May;43(5):451-6
Van Esch H. et al. Am J Hum Genet 77,:442-453, 2005
delGaudio et al., Genet Med 2006; 8(12):784-792
Cohen D et al., J Aut Dev Dis 2005; 35:103-1116
Archer HL et al. J. Med. Genet. 43: 729-734, 2006
Tao J et al., Am. J. Hum. Genet. 75: 1149-1154, 2004
Weaving LS et al., Am J Hum Genet (2004) 75:1079-1093
American College of Medical Genetics: Paper Outlines Approach To Genetic Diagnosis. In: Medical New Today Feb7, 2008
Mental health in the United States: Parental report of diagnosed autism in children aged 4-17 years-United States, 2003-2004. MMWR Morb Mortal Wkly Rep 2006; 55(17):481-486. 2006
Fombonne E. J Clin Psychiatry 2005; 66 Suppl. 10:3-8
Fombonne et al., J Autism Dev Disord. 1999;29(2):113-9
Shaefer GB & Mendelssohn NJ. Genet Med 2008; 10:4-12
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
Exon Array CGH
MLPA
Next-Gen Sequencing
Ordering
729
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs
Billing
81404x1, 81405x2, 81406x3
Yes
Yes
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
Jansen and Andermann (Updated December 2007). Progressive Myoclonic Epilepsies, Lafora Type. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http:
Lehesjoki and Kalviainan (Updated June 2009) Unverricht-Lundborg Disease. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.or
Mole and Williams (Updated March 2010). Neuronal Ceroid Lipofuscinosis. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
Bennett S. (2004) Pharmacogenomics 5:433-8.
Das et al., (1998) J Clin Invest 102:361-370. 8. Sleat et al., (1999) Am J Hum Genet 64:1511-1523.
Munroe et al., (1997) Am J Hum Genet 61:310-316.
Noskova et al., (2011) Am J Hum Genet 89:241-252.
Velinov et al., (2012) PloS One 7:e29729.
Staropoli et al., (2012) Am J Hum Genet 91:202-208.
Dibbens et al., (2009) Ann Neurol 66:532-536.
Berkovic et al., (2008) Am J Hum Genet 82:673-684.
Pal et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol (2010) 6:445-453
Steinlein et al. Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci (2004) 5:401-408.
Bennett S. Pharmacogenomics (2004) 5:433-8.
Ramachandran et al. The autosomal recessively inherited progressive myoclonus epilepsies and their genes Epilepsia (2009) 50:29-36.
Macdonald et al. Mutations in GABA receptor subunits associated with genetic epilepsies. J Physiol (2010) 588:1861-1869.
Andrade DM. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brains. Hum Genet (2009) 126:173-193.
Deprez et al. Genetics of epilepsy syndromes starting in the first year of life. Neurology (2009) 72:273-281.
Ottman et al. Genetic testing in the epilepsies – Report of the ILAE Genetics Commission. Epilepsia (2010) 51:655-670.
Nicita et al., The genetics of monogenic idiopathic epilepsies and epileptic encephalopathy Seizure: Eur J Epilepsy (2011) doi:10.1016/j.seizure.2011.08.007
Weber et al., Genetic mechanisms in idiopathic epilepsy Dev Med Child Neurol (2008) 50:648-654.
Pong et al. Developments in molecular genetic diagnostics: An update for the pediatric epilepsy specialist Pediatr Neurol (2011) 44:317-327
Pellock, JM. Understanding co-morbidities affecting children with epilepsy. Neurol (2004) 62:S17-S23.
Berg et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commision on Classification and Terminology, 2005- 2009. Epilepsia (2010) 51: 676-685.
Andrade DM. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brains. Hum Genet (2009) 126:173-193.
Macdonald et al. Mutations in GABA receptor subunits associated with genetic epilepsies. J Physiol (2010) 588:1861-1869.
Ottman et al. Genetic testing in the epilepsies – Report of the ILAE Genetics Commission. Epilepsia (2010) 51:655-670.
Weber et al., Genetic mechanisms in idiopathic epilepsy Dev Med Child Neurol (2008) 50:648-654.
Nicita et al., The genetics of monogenic idiopathic epilepsies and epileptic encephalopathy Seizure: Eur J Epilepsy (2011) doi:10.1016/j.seizure.2011.08.007
Deprez et al. Genetics of epilepsy syndromes starting in the first year of life. Neurology (2009) 72:273-281.
Berg et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commision on Classification and Terminology, 2005- 2009. Epilepsia (2010) 51: 676-685.
Ramachandran et al. The autosomal recessively inherited progressive myoclonus epilepsies and their genes Epilepsia (2009) 50:29-36.
Steinlein et al. Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci (2004) 5:401-408.
Pal et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol (2010) 6:445-453
Pellock, JM. Understanding co-morbidities affecting children with epilepsy. Neurol (2004) 62:S17-S23.
Pong et al. Developments in molecular genetic diagnostics: An update for the pediatric epilepsy specialist Pediatr Neurol (2011) 44:317-327
To differentiate fragile X syndrome from other causes of intellectual disability and autism spectrum disorders
Preconception/prenatal carrier testing for women with a personal or family history of fragile X syndrome, unexplained intellectual disability, autism spectrum disorders, or POI
Carrier testing for at-risk relatives
PCR Fragment Analysis
Ordering
522
2 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)
Billing
81243x1, 81244x1
Yes
Yes
759.83 Fragile X syndrome
781.3 Lack of coordination Ataxia NOS Muscular incoordination Excludes: ataxic gait (781.2) cerebellar ataxia (334.0-334.9) difficulty in walking (719.7) vertigo NOS (780.4)
256.39 Other ovarian failure Delayed menarche Ovarian hypofunction Primary ovarian failure NOS
299 Pervasive developmental disorders
315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
McConkie-Rosell et al., (2005) J Genet Couns 14:249-270.
Sherman et al., (2005) Genet Med 7:584-587.
Pirozzi et al., (2011) Am J Med Genet A 155:1803-1816.
Jacquemont et al., (2004) JAMA 291:460-469.
Berry-Kravis et al., (2007) Movement Disord 14:2018-2030.
Willemsen et al., (2011) Clin Genet [EPub ahead of print 2011 June 8].
ACOG Committee Opinion Number 469 (2010) Obstet Gynecol 116:1008-1010.
Hunter et al., (2009) Genet Med 11:79-89.
Fernandez-Carvajal et al., (2009) J Molec Diag 11:306-210.
Spector and Kronquist (2006) Technical Standards and Guidelines for Fragile X Testing: Supplement to Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Online: http://www.acmg.net/Pages/ACMG_Activities
Crawford et al., (2001) Genet Med 3:359-371.
Jacquemont et al., (2011) Eur J Hum Genet 19:doi:10.1038/ejhg.2011.55
Bird T. Hereditary Ataxia Overview. 1998 Oct 28 [Updated 2016 Nov 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/boo
Finsterer et al. (2009) Can J Neurol Sci 36 (4):409-28 (PMID: 19650351)
Jayadev et al. (2013) Genet. Med. 15 (9):673-83 (PMID: 23538602)
Sandford et al. (2014) Genes (Basel) 5 (3):586-603 (PMID: 25055202)
Durr et al. (2010) Lancet Neurol 9 (9):885-94 (PMID: 20723845)
Embiruçu et al. (2009) Arq Neuropsiquiatr 67 (4):1143-56 (PMID: 20069237)
Kalia et al. (2016) Genet. Med.: (PMID: 27854360)
Nemeth et al. (2013) Brain 136 (Pt 10):3106-18 (PMID: 24030952)
Sastry et al. Exome Sequencing Provides a Broad Evaluation and High Diagnostic Rate for Ataxia-Related Disorders [abstract and platform presentation] To be presented at the 2017 ACMG Annual Clinical Genetics Meeting, March 21-25, 2016 Phoenix, AZ
Retterer et al. (2015) Genet. Med.: (PMID: 26633542)
Mackenzie et al. (2014) Acta Neuropathol. 127 (3):347-57 (PMID: 24356984)
White et al. (2016) Curr. Opin. Neurol. 29 (5):557-64 (PMID: 27538057)
Cruts M, Engelborghs S, van der Zee J, et al. C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. 2015 Jan 8. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seat
Cruts et al. (2013) Trends Neurosci. 36 (8):450-9 (PMID: 23746459)
van der Zee et al. (2013) Hum. Mutat. 34 (2):363-73 (PMID: 23111906)
Gijselinck et al. (2016) Mol. Psychiatry 21 (8):1112-24 (PMID: 26481318)
Akimoto et al. (2014) J. Med. Genet. 51 (6):419-24 (PMID: 24706941)
Ross LF, Saal HM, David KL, Anderson RR; American Academy of Pediatrics; American College of Medical Genetics and Genomics. Technical report: Ethical and policy issues in genetic testing and screening of children. Genet Med. 2013 Mar;15(3):234-45.
COMMITTEE ON BIOETHICS, COMMITTEE ON GENETICS, AND THE AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS SOCIAL, ETHICAL, AND LEGAL ISSUES COMMITTEE. POLICY STATEMENT. Ethical and Policy Issues in Genetic Testing and Screening of Children. Pediatrics. 201
American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet. 1995 Nov;57(5
NSGC Executive Office. Genetic Testing of Minors for Adult-Onset Conditions Position Statement (Adopted 2012).
AMA Code of Medical Ethics Opinion 2.138 - Genetic Testing of Children. Issued June 1996.
Botkin JR et al. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. American Journal Of Human Genetics. 2015 Jul 02 97(1):6-21.2614044
Adachi et al. (2005) Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain 128:659-70.
Atsuta et al. (2006). Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain 129:1446-1455.
Doyu et al. (1992). Severity of X-linked recessive bulbospinal neuronopathy correlates with size of tandem CAG repeat in androgen receptor gene. Ann Neurol 32:707-710.
Grunseich & Fischbeck. (2013) Spinal and bulbar muscular atrophy: pathogenesis and clinical management. Oral Dis 20:6-9.
Kennedy et al. (1968) Progressive proximal spinal and bulbar muscular atrophy of later onset: A sex –linked recessive trait. Neurology 18:671-680.
Kuhlenbaumer et al. (2001) Thirty-seven CAG repeats in the androgen receptor gene in two health individuals. J Neurol 248:23-6.
La Spada. (1999; Updated July 2014) Spinal and Bulbar Muscular Atrophy. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/b
La Spada et al. (2010) Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet 11:247-58.
Li et al. (1998) Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy 44: 249-254.
Rhodes et al. (2009). Clinical features of spinal and bulbar muscular atrophy. Brain 157:290-294.
Olney et al., (1991) Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy. Neuro 41: 823-8.
Soraru et al. (2008) Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 264: 100-105.
Tanaka et al. (1996) Founder effect in spinal and bulbar muscular atrophy (SBMA). Hum Mol Genet 5:1253-7.
Arsenault et al. (2006) Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neuro 66:1248-50.
Bird TD. Myotonic Dystrophy Type 1. 1999 Sep 17 [Updated 2013 May 16]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/
Dalton JC, Ranum LPW, Day JW. Myotonic Dystrophy Type 2. 2006 Sep 21 [Updated 2013 Jul 3]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncb
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 2003;60:657–64.
Liquori et al. (2001). Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Sci 293:864-7.
Logigian et al. (2005) Quantitative analysis of the “warm-up” phenomenon in myotoc dysrphy type 1. Muscel Nerve 32:35-42.
Sternberg D, Tabti N, Hainque B, et al. Hypokalemic Periodic Paralysis. 2002 Apr 30 [Updated 2009 Apr 28]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from
Suominen et al. (2011). Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet 19: 776-82.
Udd et al. (2010) Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands. Neuromuscl Disord 21: 443-50.
Yotova et al. (2005) Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet 117:177-87.
Arsenault et al. (2006) Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neuro 66:1248-50.
Bird TD. Myotonic Dystrophy Type 1. 1999 Sep 17 [Updated 2013 May 16]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/
Dalton JC, Ranum LPW, Day JW. Myotonic Dystrophy Type 2. 2006 Sep 21 [Updated 2013 Jul 3]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncb
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 2003;60:657–64.
Liquori et al. (2001). Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Sci 293:864-7.
Logigian et al. (2005) Quantitative analysis of the “warm-up” phenomenon in myotoc dysrphy type 1. Muscel Nerve 32:35-42.
Sternberg D, Tabti N, Hainque B, et al. Hypokalemic Periodic Paralysis. 2002 Apr 30 [Updated 2009 Apr 28]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from
Suominen et al. (2011). Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet 19: 776-82.
Udd et al. (2010) Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands. Neuromuscl Disord 21: 443-50.
Yotova et al. (2005) Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet 117:177-87.
Aartsma-Rus et al. (2006) Ann N Y Acad Sci. 1082:74–6.
Barbujani et al. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet 1990: 84: 522-6.
Bennett (2004) Pharmacogenomics. 5(4):433-8.
Bushby et al., (1991) Lancet (337):1022–4.
Callis et al. (2010). Expert Rev Mol Diagn 10:329-351.
Darras et al. Dystrophinopathies. 2000 Sep 5 [Updated 2011 Nov 23]. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available at http://www.genetests.org.
del Gaudio et al., Hum Mutat 2008 29:1100-1107. PMID 18752307
Dooley et al. (2010) Clin Pediatr (Phila) 49:177–9.
Flanigan et al. (2003) Am J Hum Gen 72: 931-945.Hershberger et al. (Updated [3/2009]). Dilated Cardiomyopathy Overview. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online).
Aartsma-Rus et al. (2006) Ann N Y Acad Sci. 1082:74–6.
Barbujani et al. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet 1990: 84: 522-6.
Bennett (2004) Pharmacogenomics. 5(4):433-8.
Bushby et al., (1991) Lancet (337):1022–4.
Callis et al. (2010). Expert Rev Mol Diagn 10:329-351.
Callis et al. (2010). Expert Rev Mol Diagn 10:329-351.
del Gaudio et al., Hum Mutat 2008 29:1100-1107. PMID 18752307
Dooley et al. (2010) Clin Pediatr (Phila) 49:177–9.
Flanigan et al. (2003) Am J Hum Gen 72: 931-945.Hershberger et al. (Updated [3/2009]). Dilated Cardiomyopathy Overview. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online).
Anvar et al. (2011) Deregulation of the ubiquitin-proteasome system in the predominant molecular pathology in OPMD animal models and patients. Skelet Muscle 1:15.
Askanas et al. (1995) New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies. Curr Opin Rheumatol. 7:486-96.
Becher et al. (2001) Oculopharyngeal muscular dystrophy in Hispanic New Mexicans. JAMA 286:2437-40.
Blumen et al. Epidemiology and inheritance of oculophyaryngeal muscular dystrophy in Israel. Neuromuscul Disord 6:S38-40.
Brais et al. (1998) Short GCG expansion in the PABP3 gene cause oculopharyngeal muscular dystrophy. Nat Genet 18:164-7.
Trollet C, Gidaro T, Klein P, et al. Oculopharyngeal Muscular Dystrophy. 2001 Mar 8 [Updated 2014 Feb 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available
Selcen and Engel. Myofibrillar Myopathy. 2002 Jan 28 [Updated 2012 Oct 29]. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1499/
Greenberg, S.A., et al. (2012). Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann. Neurol. 71, 141-145. (PMID: 22275259)
Pegoraro et al. Limb-Girdle Muscular Dystrophy Overview. 2000 June 8 [Updated 2012 Aug 30]. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1408/
Finsterer et al. (2012) J Neurol Sci 318 (1-2): 1-18.
Fink JK. Hereditary Spastic Paraplegia Overview. 2000 Aug 15 [Updated 2014 Feb 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nl
Fink JK (2014) Semin Neurol 34: 293-305.
Fink JK (2013) Acta Neuropathol 126(3): 307-328.
Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel
Finsterer et al. (2012) J Neurol Sci 318 (1-2): 1-18.
Fink JK. Hereditary Spastic Paraplegia Overview. 2000 Aug 15 [Updated 2014 Feb 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nl
Finsterer et al. (2012) J Neurol Sci 318 (1-2): 1-18.
Fink JK. Hereditary Spastic Paraplegia Overview. 2000 Aug 15 [Updated 2014 Feb 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nl
Bird T. Hereditary Ataxia Overview. 1998 Oct 28 [Updated 2016 Nov 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/boo
Finsterer et al. (2009) Can J Neurol Sci 36 (4):409-28 (PMID: 19650351)
Jayadev et al. (2013) Genet. Med. 15 (9):673-83 (PMID: 23538602)
Sandford et al. (2014) Genes (Basel) 5 (3):586-603 (PMID: 25055202)
Durr et al. (2010) Lancet Neurol 9 (9):885-94 (PMID: 20723845)
Embiruçu et al. (2009) Arq Neuropsiquiatr 67 (4):1143-56 (PMID: 20069237)
Kalia et al. (2016) Genet. Med.: (PMID: 27854360)
Nemeth et al. (2013) Brain 136 (Pt 10):3106-18 (PMID: 24030952)
Sastry et al. Exome Sequencing Provides a Broad Evaluation and High Diagnostic Rate for Ataxia-Related Disorders [abstract and platform presentation] To be presented at the 2017 ACMG Annual Clinical Genetics Meeting, March 21-25, 2016 Phoenix, AZ
Retterer et al. (2015) Genet. Med.: (PMID: 26633542)
Neurometabolic Disorders Testing
Reflex Del/Dup Testing After MMA and Related Disorders Panel
Testing of patients suspected of having an inborn error of metabolism associated with methylmalonic acidemia and/or hyperhomocysteinemia/homocystinuria
As a substitute for complementation analysis
Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
Exon Array CGH
Ordering
685
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Billing
81479x3
Yes
Yes
796.6 Abnormal findings on neonatal screening
276.2 Acidosis Acidosis
270.4 Disturbances of sulphur-bearing amino-acid metabolism, Cystathioninemia, Cystathioninuria, Disturbances of metabolism of methionine, homocystine, and cystathionine Homocystinuria, Hypermethioninemia, Methioninemia
270.7 Other disturbances of straight-chain amino-acid metabolism, Glucoglycinuria, Glycinemia (with methylmalonic acidemia), Hyperglycinemia, Hyperlysinemia, Pipecolic acidemia, Saccharopinuria, Other disturbances of metabolism of glycine, threonine, serine, glutamine, and lysine
277.8 Other specified disorders of metabolism
270.9 Unspecified disorder of amino-acid metabolism
Manoli, I. and Venditti, C., (Updated [Sept. 28, 2010]). Methylmalonic Acidemia. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2011. Available at http://www.gene
Adams, D. and Venditti, C., (Updated [August 11, 2009]). Disorders of Intracellular Cobalamin Metabolism. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Avai
Miousse et al., (2009) J Pediatr 154:551-556.
Rutsch et al., (2009) Nature Genetics 41:234-239.
Quadros et al., (2010) Hum Mutat 31:924-929.
Bennett S.(2004) Pharmacogenomics 5:433-8.
Worgan, et al., (2006) Hum Mutat 27:31-43.
Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516.
Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87 :219-225.
Lerner-Ellis et al., (2009) Hum Mutat 30:1072-1081.
Alfares et al., (2011) J Med Genet 48:602-605.
Sloan et al., (2011) Nat Genet 43:883-886.
Salomons et al., (2007) J Inherit Metab Dis 30:23- 28.
Lanpher et al., (Updated [Sept. 1, 2011]). Urea Cycle Disorders Overview. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.org
Auron, A.and Brophy, P. (2011) Pediatr Nephrol [Epub ahead of print].
Bennett S.(2004) Pharmacogenomics 5:433-8.
Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632.
Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S. 7. Desviat et al., (2009) Mol Genet Metab 96:171-176.
Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
Testing of patients suspected of having an inborn error of metabolism associated with methylmalonic acidemia and/or hyperhomocysteinemia/homocystinuria
As a substitute for complementation analysis
Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
Next-Gen Sequencing
Ordering
667
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs
Billing
81404x1, 81405x2, 81406x1
Yes
Yes
796.6 Abnormal findings on neonatal screening
276.2 Acidosis Acidosis
270.4 Disturbances of sulphur-bearing amino-acid metabolism, Cystathioninemia, Cystathioninuria, Disturbances of metabolism of methionine, homocystine, and cystathionine Homocystinuria, Hypermethioninemia, Methioninemia
270.7 Other disturbances of straight-chain amino-acid metabolism, Glucoglycinuria, Glycinemia (with methylmalonic acidemia), Hyperglycinemia, Hyperlysinemia, Pipecolic acidemia, Saccharopinuria, Other disturbances of metabolism of glycine, threonine, serine, glutamine, and lysine
277.8 Other specified disorders of metabolism
270.9 Unspecified disorder of amino-acid metabolism
Manoli, I. and Venditti, C., (Updated [Sept. 28, 2010]). Methylmalonic Acidemia. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2011. Available at http://www.gene
Adams, D. and Venditti, C., (Updated [August 11, 2009]). Disorders of Intracellular Cobalamin Metabolism. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Avail
Miousse et al., (2009) J Pediatr 154:551-556.
Rutsch et al., (2009) Nature Genetics 41:234-239.
Quadros et al., (2010) Hum Mutat 31:924-929.
Bennett S.(2004) Pharmacogenomics 5:433-8.
Worgan, et al., (2006) Hum Mutat 27:31-43.
Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516.
Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87 :219-225.
Lerner-Ellis et al., (2009) Hum Mutat 30:1072-1081.
Alfares et al., (2011) J Med Genet 48:602-605.
Sloan et al., (2011) Nat Genet 43:883-886.
Salomons et al., (2007) J Inherit Metab Dis 30:23- 28.
Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
Lanpher et al., (Updated [Sept. 1, 2011]). Urea Cycle Disorders Overview. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.or
Auron, A.and Brophy, P. (2011) Pediatr Nephrol [Epub ahead of print]
Bennett S.(2004) Pharmacogenomics 5:433-8.
Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632.
Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S.
Desviat et al., (2009) Mol Genet Metab 96:171-176.
Testing of patients suspected of having a mitochondrial fatty acid oxidation disorder
Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
Next-Gen Sequencing
Ordering
664
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs
Billing
81404x1, 81405x1, 81406x3
Yes
Yes
796.6 Abnormal findings on neonatal screening
277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
Kaback, M. (Updated [May 19, 2006]) Hexosaminidase A Deficiency In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2007. Available at http://www.genetests.org.
Maegawa et al., (2006) Pediatrics 118:e1550-e1562.
Giraud et al., (2010) Biochem Biophys Res Commun 392:599-602.
Montalvo et al., (2005) Hum Mutat 26:282.
Park et al., (2010) Pediatr Res 67:217-20.
Myerowitz, R. And Hogikyan, N. (1986) Science 232:1646-1648.
Hechtman et al., (1992) Hum Genet 90:402-406.
Triggs-Raine et al., (1990) N Engl J Med 323:6-12.
277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
Wenger, D. (Updated [Aug. 5, 2008]) Krabbe Disease. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle 1997-2010. Available at http://www.genetests.org.
Lee et al., (2010) J Neurosci 30:5489-5497.
Xu et al., (2006) J Hum Genet 51:548-554.
Fu, et al., (1999) J Inher Metab Dis 22:155-162.
Lissens et al., (2007) Hum Mutat 28:742.
De Gasperi et al., (1996) Am J Hum Genet 59:1233-1242.
Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
Testing of patients suspected of having a mitochondrial fatty acid oxidation disorder
Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
Exon Array CGH
Ordering
683
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Billing
81479x3
Yes
Yes
796.6 Abnormal findings on neonatal screening
277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
270.4 Disturbances of sulphur-bearing amino-acid metabolism, Cystathioninemia, Cystathioninuria, Disturbances of metabolism of methionine, homocystine, and cystathionine Homocystinuria, Hypermethioninemia, Methioninemia
270.9 Unspecified disorder of amino-acid metabolism
Rosenblatt, DS and Fenton, WA (2001) Inherited disorders of folate and cobalamin transport and metabolism . In: C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle (Eds)The Metabolic and Molecular Basis of Inherited Diseases, McGraw-Hill, NY
Lerner-Ellis, JP et al., (2006) Nature Genet 38:93-100
Rosenblatt, DS et al. (1985) Science 28:1319-1321
Lerner-Ellis et al., (2009) Hum Mutat 30:1072-1081
272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
Simonaro CM, Park J-H, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH (2006). Am J Hum Genet 78:865-70;
Sikora J, PavluPereira H, Elleder M, Roelofs H, Wevers RA (2003). Annals of Human Genetics 67:63-70
Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH (2002. Am J Hum Genet 71:1413-9
Fernandez-Burriel M, Pena L, Ramos JC, Cabrera JC, Marti M, Rodriguez-Quinones F, Chabas A (2003). Clin Genet 63(3):235-6
McGovern MM, Schuchman EH (Updated 12-06-2006) Acid sphingomyelinase deficiency, In: GeneReviews at GeneTests: Medical Genetics Information Resource (databse online)
K.L. Skjei et al., “KBG Syndrome: Reports of Twins, Neurological Characteristics, and Delineation of Diagnostic Criteria”. Am J Med Genet, Part A Vol. 143A: 292-300 (2007).
S. Sacharow et al., “Familial 16q24.3 Microdeletion Involving ANKRD11 Causes a KBG-Like Syndrome”. Am J of Med Genet Part A Vol. 158A: 547-552 (2012).
M.H. Willemsen et al., “Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome”. Eur J of Human Genet Vol 18: 429-435. (2010)
M. Isrie et al., “Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms”. Eur J of Hum Genet Vol 20: 131-133 (2012).
E.L. Youngs et al., “ANKRD11 gene deletion in a 17-year-old male”. Clinical Dysmorphology Vol 20: 170- 171. (2011)
F. Brancati et al., “KBG syndrome in a cohort of Italian patients”. Am J Med Genet Part A Vol. 131A: 144- 149 (2004).
A. Sirmaci et al., “Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia”. Am J Hum Genet Vol 89: 289-294 (2011).
A. Zhang et al., “Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators”. J Biol. Chem Vol. 279: 33799-33805 (2004).
A. Zhang et al., “Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1”. Biochemical and Biophysical Research Communications Vol.358: 1034–1040 (2007).
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)
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
Jin, D.K. et al. (2011) Korean J Pediatr, 54(2):55-63.
Whittington, J. et al. (2010) Am J Med Genet, 154C:438-447.
Dykens, E. & Shah, B. (2003) CNS Drugs, 17(3):167-178.
Milner, K. et al. (2005) J Child Psychol Psyc, 46(10):1089-1096.
Chai, J-H. et al. (2003) Am J Hum Genet, 73:898-925.
Veltman, M. et al. (2005) Psych Genet, 15:243-254.
Bittel, D.C. et al. (2006) Pediatrics, 118(4):e1276-1283.
Buiting, K. et al. (2003) Am J Hum Genet, 72:571-577.
Holm, V. et al. (1993) Pediatrics, 91:398-402.
Gunay-Aygun, M. et al. (2001) Pediatrics, 108(5):e92.
Cassidy, S. and Schwartz, S. (Updated September 3, 2009). Prader-Willi Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-. Available at http://www.genetests.
272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
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.
779 Other and ill-defined conditions originating in the perinatal period
333 Other extrapyramidal disease and abnormal movement disorders Includes: other forms of extrapyramidal, basal ganglia, or striatopallidal disease Excludes: abnormal movements of head NOS (781.0) sleep related movement disorders (327.51-327.59)
315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
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
277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
Identification of family members at-risk for cerebral cavernous malformations (CCMs)
Recurrence risk assessment
Prenatal diagnosis in families with a known mutation
Capillary Sequencing
Exon Array CGH
Ordering
526
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs
Billing
81479x1
No
Yes
747.81 Anomalies of cerebrovascular system, Arteriovenous malformation of brain, Cerebral arteriovenous aneurysm, congenital Congenital anomalies of cerebral vessels
228 Hemangioma and lymphangioma,
747.6 Other anomalies of peripheral vascular system, Absence of artery or vein, NEC Anomaly of artery or vein, NEC Atresia of artery or vein, NEC Arteriovenous aneurysm (peripheral), Arteriovenous malformation of the peripheral vascular system Congenital: aneurysm (peripheral) phlebectasia stricture, artery varix Multiple renal arteries Excludes: anomalies of: cerebral vessels (747.81) pulmonary artery (747.3) congenital retinal aneurysm (743.58) hemangioma (228.00-228.09) lymphangioma (228.1)
325 Phlebitis and thrombophlebitis of intracranial venous sinuses, Embolism of cavernous, lateral, or other intracranial or unspecified intracranial venous sinu,s Endophlebitis of cavernous, lateral, or other intracranial or unspecified intracranial venous sinus Phlebitis, septic or suppurative of cavernous, lateral, or other intracranial or unspecified intracranial venous sinus Thrombophlebitis of cavernous, lateral, or other intracranial or unspecified intracranial venous sinus Thrombosis of cavernous, lateral, or other intracranial or unspecified intracranial venous sinus Excludes: that specified as: complicating pregnancy, childbirth, or the puerperium (671.5) of nonpyogenic origin (437.6)
Kaback, M. (Updated [May 19, 2006]) Hexosaminidase A Deficiency In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2007. Available at http://www.genetests.org.
Maegawa et al., (2006) Pediatrics 118:e1550-e1562.
Giraud et al., (2010) Biochem Biophys Res Commun 392:599-602.
Montalvo et al., (2005) Hum Mutat 26:282.
Park et al., (2010) Pediatr Res 67:217-20.
Myerowitz, R. And Hogikyan, N. (1986) Science 232:1646-1648.
Hechtman et al., (1992) Hum Genet 90:402-406.
Triggs-Raine et al., (1990) N Engl J Med 323:6-12.
Wenger, D. (Updated [Aug. 5, 2008]) Krabbe Disease. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle 1997-2010. Available at http://www.genetests.org.
Lee et al., (2010) J Neurosci 30:5489-5497.
Xu et al., (2006) J Hum Genet 51:548-554.
Fu, et al., (1999) J Inher Metab Dis 22:155-162.
Lissens et al., (2007) Hum Mutat 28:742.
De Gasperi et al., (1996) Am J Hum Genet 59:1233-1242.
Seikijima Y et al. Transthyretin amyloidosis, In: GeneReviews. Last Update: March 15, 2006. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tfap
Hou et al. (2007) Transthyretin and familial amyloidotic polyneuropathy FEBS 274, 1637-50
Jacobson DR et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in Black Americans. New Eng. J. Med. 336: 466-473, 1997
Coelho T et al. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J. Med. Genet. 31: 293-299, 1994
Holmgren G et al. Geographical distribution of TTR met-30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. J. Med. Genet. 31: 351-354, 1994
Ikeda S et al. Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy. Europ. Neurol. 32: 308-313, 1992
Holmgren G et al. Homozygosity for the transthyretin-met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin. Genet. 41: 39-41, 1992
Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
Ando, Y. et al. (2005) Transthyretin-related Familial Amyloidotic Polyneuropathy Arch Neurol 62, 1057-62
Saraiva, M.J.M. (2001) Transthyretin Mutations in Hyperthyroxinemia and Amyloid Disease Hum Mutat 17, 493-503
Sekijima et al. (2005) The biological and chemical basis for tissue-selective amyloid disease Cell 121, 73-85
277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
270.4 Disturbances of sulphur-bearing amino-acid metabolism, Cystathioninemia, Cystathioninuria, Disturbances of metabolism of methionine, homocystine, and cystathionine Homocystinuria, Hypermethioninemia, Methioninemia
270.9 Unspecified disorder of amino-acid metabolism
Rosenblatt, DS and Fenton, WA (2001) Inherited disorders of folate and cobalamin transport and metabolism . In: C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle (Eds)The Metabolic and Molecular Basis of Inherited Diseases, McGraw-Hill, NY
Lerner-Ellis, JP et al., (2006) Nature Genet 38:93-100
Rosenblatt, DS et al. (1985) Science 28:1319-1321
Lerner-Ellis et al., (2009) Hum Mutat 30:1072-1081
277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
Simonaro CM, Park J-H, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH (2006). Am J Hum Genet 78:865-70;
Sikora J, PavluPereira H, Elleder M, Roelofs H, Wevers RA (2003). Annals of Human Genetics 67:63-70
Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH (2002. Am J Hum Genet 71:1413-9
Fernandez-Burriel M, Pena L, Ramos JC, Cabrera JC, Marti M, Rodriguez-Quinones F, Chabas A (2003). Clin Genet 63(3):235-6
McGovern MM, Schuchman EH (Updated 12-06-2006) Acid sphingomyelinase deficiency, In: GeneReviews at GeneTests: Medical Genetics Information Resource (databse online)
Nakamine, A. et al., Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Am J Med Genet. 146A(5):636-643, 2008
Dr. Sarah Elsea, personal communication, 2005
Girirajan, S. et al., RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 42: 820-28, 2005
Bi, W. et al., Mutations of RAI1, a PHD-containing protein, in non-deletion patients with Smith-Magenis syndrome. Hum Genet. 115: 515-24, 2004
Slager, R.et al., Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 33: 466-68 2003
Girirajan, S. et al., Genotype-phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med. 8: 417-27, 2006
Prenatal diagnosis in families with an affected child and known mutation(s)
Capillary Sequencing
Ordering
239
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs
Billing
81479x1
No
Yes
705 Disorders of sweat glands
778.4 Other disturbances of temperature regulation of newborn, Dehydration fever in newborn, Environmentally induced pyrexia, Hyperthermia in newborn, Transitory fever of newborn
742.8 Other specified anomalies of nervous system, Agenesis of nerve, Displacement of brachial plexus, Familial dysautonomia, Jaw-winking syndrome, Marcus-Gunn syndrome, Riley-Day syndrome
Eisenberg, I et al., Mutation Spectrum of GNE in Hereditary Inclusion Body Myopathy Sparing Quadriceps Hum Mutat 21(1):99 (2003)
Eisenberg I, et al., The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy Nature Genet 29:83-87 (2001)
Identification of the specific gene defect(s) to allow: (a) Identification of non-expressing mutation carriers in families with an affected member (b) Prenatal diagnosis for the specific mutation in the family
Capillary Sequencing
MLPA
Ordering
2371
9-10 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs
Billing
81479x4
Yes
Yes
742.2 Reduction deformities of brain Absence of part of brain, Agenesis of part of brain, Agyria Aplasia of part of brain, Arhinencephaly, Holoprosencephaly, Hypoplasia of part of brain Microgyria
Schuelke, M et al., Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 21(3):260-1. 1999
Brenner, M et al., Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease Nature Genetics 27:117-120 (2001)
Meins M et al., Infantile Alexander Disease: A GFAP Mutation in Monozygotic Twins and Novel Mutations in Two Other Patients Neuropediatrics 33:194-198 (2002)
Rodriguez D et al., Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation Am J Hum Genet 69:1134-1140 (2001)
Gorospe JR et al., Molecular findings in symptomatic and pre-symptomatic Alexander disease patients Neurology 58: 1494-1500 (2002)
An individual with a personal and family history of skin pigment abnormalities and/or tumors associated with Carney Complex such as lentigines, myxoma, primary pigmented nodular adrenocortical disease (PPNAD), psammomatous melanotic schwannomas (PMS), large-cell calcifying Sertoli cell tumors (LCCSCT) and other tumors
An individual with multiple tumors associated with Carney Complex, particularly if at least one is early-onset
An individual with a personal history of a rare tumor associated with Carney Complex such as cardiac myxoma, PPNAD, PMS, and other tumors
An unaffected individual with a family history suggestive of Carney Complex (see above) when an affected individual is unavailable for his or her own genetic testing
Capillary Sequencing
Exon Array CGH
Ordering
205
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse
Klein, R. et al., Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med. 7: 611-19, 2005
Wicking, C. et al., Most Germ-Line Mutations in the Nevoid Basal Cell Carcinoma Syndrome Lead to a Premature Termination of the PATCHED Protein, and No Genotype-Phenotype Correlations Are Evident. Am J Hum Genet. 60: 21-26, 1997
Lindström, E. et al., PTCH Mutations: Distribution and Analyses. Hum Mutat. 27: 215-19, 2006
Benhamed S and Bale S. Gorlin Syndrome: A substantial proportion of previously “missing” mutations are large PTCH deletions. ASHG Abstract presented 2008.
An adult with features of PTEN hamartoma tumor syndrome (PHTS), such as characteristic skin lesions (trichilemmomas, acral keratoses, papillomas, lipomas, etc.), macrocephaly, gastrointestinal polyps (especially hamartomas or ganglioneuromas), Lhermitte-Duclos disease, or associated cancers (breast, endometrial, non-medullary thyroid, renal, melanoma, colon), among other features
A child with early-onset features of PHTS, such as macrocephaly, autism, developmental delay, lipomas, penile freckling, or vascular anomalies, among other features
An unaffected individual with a family history suggestive of PHTS (see above) when an affected individual is unavailable for his or her own genetic testing
Capillary Sequencing
Exon Array CGH
Ordering
195
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse
Prenatal diagnosis in families with an affected child and known mutation(s)
Capillary Sequencing
Ordering
219
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs
Billing
81479x1
No
Yes
255.4 Corticoadrenal insufficiency
530 Diseases of esophagus Excludes: esophageal varices (456.0-456.2)
337 Disorders of the autonomic nervous system Includes: disorders of peripheral autonomic, sympathetic, parasympathetic, or vegetative system Excludes: familial dysautonomia [Riley-Day syndrome] (742.8)
356 Hereditary and idiopathic peripheral neuropathy
Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1
Evans DG. Neurofibromatosis 2. 1998 Oct 14 [Updated 2011 Aug 18]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK12
Stevenson D, Viskochil D, Mao R, et al. Legius Syndrome. 2010 Oct 14 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.nc
Trovo-Marqui, A, Tajara E. (2006) Clin. Genet. 70: 1-13 (PMID: 16813595)
Curto M, McClatchey A. (2008) Brit. J. Cancer 98: 256-262 (PMID: 17971776)
Brems et al., (2012) Hum. Mutat. 33: 1538-1546 (PMID: 22753041)
Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 609291: 09/24/13: World Wide Web URL: http://omim.org/.
Spencer et al., (2011) Am J Med Genet Part A 155:1352–1359 (PMID: 21548021)
Evans D. (2009) Genet Med 11: 599–610 (PMID: 19652604)
Ahronowitz et al., (2007) Hum. Mutat. 28: 1-12 (PMID: 16983642)
Wimmer et al., (2006) Genes Chromosomes Cancer 45:265–76 (PMID: 16283621)
Valero et al. (2011) J Mol Diagn 13:113–22 (PMID: 21354044)
Sabbagh et al., (2013) Hum. Mutat. 34:1510-1518 (PMID: 23913538)
Baser et al., (2006) Hum Mutat. 27: 297-306 (PMID: 16521120)
Stumpf et al. (1988) Arch Neurol 45:575-578 (PMID: 3128965)
Messiaen et al., (2009) JAMA 302:2111–8 (PMID: 19920235)
Pasmant et al., (2010) Hum Mutat 31:E1506–18 (PMID: 20513137)
Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 611413: 02/20/13: World Wide Web URL: http://omim.org/.
Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
Bennett, S. (2004) Pharmacogenomics 5, 433-8.
Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
Gibson, K. M., Wappner, R. S., Jooste, S., Erasmus, E., Mienie, L. J., Gerlo, E., Desprechins, B., and De Meirleir, L. (1998) J Inherit Metab Dis 21, 631-8.
Ogilvie, I., Kennaway, N. G., and Shoubridge, E. A. (2005) J Clin Invest 115, 2784-92.
Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16]
Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
Bennett, S. (2004) Pharmacogenomics 5, 433-8.
Gibson, K. M., Bennett, M. J., Mize, C. E., Jakobs, C., Rotig, A., Munnich, A., Lichter-Konecki, U., and Trefz, F. K. (1992) J Pediatr 121, 940-2.
Yu-Wai-Man, P., Griffiths, P. G., and Chinnery, P. F. (2011) Prog Retin Eye Res 30, 81-114.
Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
Bennett, S. (2004) Pharmacogenomics 5, 433-8.
Fratter, C., Raman, P., Alston, C. L., Blakely, E. L., Craig, K., Smith, C., Evans, J., Seller, A., Czermin, B., Hanna, M. G., Poulton, J., Brierley, C., Staunton, T. G., Turnpenny, P. D., Schaefer, A. M., Chinnery, P. F., Horvath, R., Turnbull, D. M., Go
Milone, M., and Massie, R. (2010) Neurologist 16, 84-91.
Stewart, J. D., Hudson, G., Yu-Wai-Man, P., Blakeley, E. L., He, L., Horvath, R., Maddison, P., Wright, A., Griffiths, P. G., Turnbull, D. M., Taylor, R. W., and Chinnery, P. F. (2008) Neurology 71, 1829-31.
Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
Bennett, S. (2004) Pharmacogenomics 5, 433-8.
Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
Testing of patients suspected of having a mitochondrial disorder
65 confirmed disease-causing mtDNA point variants (see list in Test Info Sheet) and large scale deletion analysis of the mitochondrial genome (including LHON [20 mutations], MELAS [16 mutations], LS/NARP [22 mutations], MIHL/MIDM [10 mutations)] MERRF [6 mutations], KSS, CPEO, Pearson syndrome, etc.)
Next-Gen Sequencing
Ordering
704
3-4 weeks
Tissue Biopsy (>50 mg Muscle or Liver-Flash Frozen)
2-5 mL Blood - Lavender Top Tube|Oral Rinse (30-40 mL)
Goto et al., (1991) Biochim Biophys Acta 1097:238-40.
Mackey et al., (1996) Am J Hum Genet 59:481-485.
Taylor et al., (2003) J Am Coll Cardiol 41:1786-96.
DiMauro, S. Gene Reviews (2005) MERRF.
Thorburn, D. Gene Reviews (2006) Mitochondrial DNA-Associated Leigh Syndrome and NARP.
DiMauro, S. Gene Reviews (2005) MELAS.
Yu-Wai-Man, P and Chinnery, P. Gene Reviews (2008) Leber Hereditary Optic Neuropathy.
Macmillan et al., (1998) Neurology 50:417-22.
Crispim et al., (2008) Arq Bras Endocrinol Metab 52:1228-1235.
Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187.
Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
Bennett S.(2004) Pharmacogenomics 5:433-8
MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org, 2008.
Achilli et al., (2012) PLoS One 7:e42242.
Pulkes et al., (1999) Ann Neurol 46:916-9.
DiMaruo, S. and Hirano, M. (Updated [May 3, 2011]). Mitochondrial DNA Deletion Syndromes In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2012. Available at http://w
Jeppesen TD,et al. (2003) Ann Neurol 54(1):86-92.
Moraes et al., (1989) N Engl J Med 18:1293-9.
Chinault et al., Genet Med (2009)11:518-526
Uusimaa et al., (2000) Pediatrics 105:598-603
Remes et al., (2005) Neurology 64:976-981
Darin et al., (2001) Ann Neurol 49:377-383
Wong, L. and Senadheera, D. (1997) Clin Chem 43:1857-1861
Molecular confirmation of a clinical diagnosis
Testing of patients suspected of having a mitochondrial disorder
Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
Bai R, Balog A, Higgs J, Retterer K, Arjona D, Juusola J, Vitazka P, Suchy S, Enns GM, Haas R, Goldstein A, Tarnopolsky M, Parikh S, Copeland WC, Niyazov D, Falk MJ, Chung WK, Bale S, Richard G. WES and WMGS for Molecular Diagnosis of Mitochondrial Disord
Pronicka et al. (2016) J Transl Med 14 (1):174 (PMID: 27290639)
Taylor et al. (2014) Jama 312 (1):68-77 (PMID: 25058219)
Retterer et al. (2015) Genet. Med.: (PMID: 26633542)
Ashwal et al., (2009) Neurology 73(11): 887-897 (PMID: 19752457).
Kaindl et al., (2010) Progress in Neurobiology 90:363-383 (PMID: 19931588).
Verloes A, Drunat S, Gressens P, et al. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders. 2009 Sep 1 [Updated 2013 Oct 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): Univers
Woods CG (2004) Current Opinion in Neurobiology 14:112-117 (PMID: 15018946).
Abuelo, D (2007) Semin Pediatr Neurol 14:118-127 (PMID: 17980308).
Faheem et al., (2015) BMC Med Genomics 8 Suppl 1:S4 (PMID: 25951892).
Shanmugham et al., Trio-based whole exome sequencing (WES): an effective diagnostic tool for patients with microcephaly [abstract]. In National Society of Genetic Counselors Annual Education Conference 2016 Sept 27-Oct 1, Seattle WA
Fry et al. (2014) American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics 166C (2):198-210 (PMID: 24862549).
Dyment et al. (2013) Current Neurology And Neuroscience Reports 13 (8):364 (PMID: 23793931)
Devisme et al. (2012) Brain : A Journal Of Neurology 135 (Pt 2):469-82 (PMID: 22323514)
Dobyns WB, Das S. LIS1-Associated Lissencephaly/Subcortical Band Heterotopia. 2009 Mar 3 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Avail
Hehr U, Uyanik G, Aigner L, et al. DCXRelated Disorders. 2007 Oct 19 [Updated 2011 Mar 24]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://ww
Verloes et al. (2015) European Journal Of Human Genetics : Ejhg 23 (3):292-301 (PMID: 25052316).
Kato et al. (2004) Human Mutation 23 (2):147-59 (PMID: 14722918)
Parisi M, Glass I. Joubert Syndrome and Related Disorders. 2003 Jul 9 [Updated 2013 Apr 11]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.n
Parisi et al. (2009) American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics 151C (4):326-40 (PMID: 19876931)
Sattar et al. (2011) Developmental Medicine And Child Neurology 53 (9):793-8 (PMID: 21679365).
Doherty et al. (2009) Seminars In Pediatric Neurology 16 (3):143-54 (PMID: 19778711).
Abdelhamed et al. (2013) Human Molecular Genetics 22 (7):1358-72 (PMID: 23283079).
Baala et al. (2007) American Journal Of Human Genetics 80 (1):186-94 (PMID: 17160906).
Badano et al. (2006) Annual Review Of Genomics And Human Genetics 7 :125-48 (PMID: 16722803).
Mykytyn et al. (2007) Nature Genetics 39 (7):818-9 (PMID: 17597771).
Khaddour et al. (2007) Human Mutation 28 (5):523-4 (PMID: 17397051).
Online Mendelian Inheritance in Man; http://omim.org.
Verloes et al. (2015) European Journal Of Human Genetics : Ejhg 23 (3):292-301 (PMID: 25052316).
Piao et al. (2005) Annals Of Neurology 58 (5):680-7 (PMID: 16240336).
Bahi-Buisson et al. (2010) Brain : A Journal Of Neurology 133 (11):3194-209 (PMID: 20929962).
Rivière et al. (2012) Nature Genetics 44 (8):934-40 (PMID: 22729224)
Mirzaa et al. (2014) Nature Genetics 46 (5):510-5 (PMID: 24705253).
Tanyalçin et al. (2013) European Journal Of Paediatric Neurology : Ejpn : Official Journal Of The European Paediatric Neurology Society 17 (6):666-70 (PMID: 23755938).
Bahi-Buisson et al. (2013) Handbook Of Clinical Neurology 111 :653-65 (PMID: 23622213).
Kato et al. (2004) Human Mutation 23 (2):147-59 (PMID: 14722918).
Vanderver A et al. Leukodystrophy Overview. 2014 Feb 6. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK184570/.
Bonkowsky et al. (2010) Neurology 75 (8):718-25 (PMID: 20660364)
Heim P, Claussen M, Hoffmann B, Conzelmann E, Gärtner J, Harzer K, Hunneman DH, Köhler W, Kurlemann G, Kohlschütter A. Leukodystrophy incidence in Germany. Am J Med Genet. 1997;71:475–8 (PMID: 9286459).
Zou et al. Whole exome sequencing: an effective and comprehensive genetic testing approach for leukodystrophy [abstract submitted] To be presented at the 2017 ASHG Annual Genetics Meeting, October 17-21, Orlando, FL.
Bird (Updated May 2010). Hereditary Neuropathy with Liability to Pressure Palsies. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.ge
Bird (Updated July 2013). Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetes
Bird (Updated March 2015). Charcot-Marie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
Bird (Updated August 2015). Charcot-Marie-Tooth Neuropathy Type 4. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
Azzedine et al. (2012) Molecular syndromology 3 (5):204-14 (PMID: 23293578)
Saporta et al. (2011) Annals of neurology 69 (1):22-33 (PMID: 21280073)
Murphy et al. (2012) Journal of neurology, neurosurgery, and psychiatry 83 (7):706-10 (PMID: 22577229)
Saporta et al. (2011) Ann Neurol 69(1): 22-33. 5. Siskind et al. (2013) J Genet Counsel 22: 422-436.
Bird (Updated April 2015). Charcot-Marie-Tooth Neuropathy Type 2. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
Reilly et al. (2011) J Periph Nervous System 16: 1-14.
Baets et al. (2011) Brain 134: 2664-2676.
Vallat et al. (2013). Curr Opin Neurol 26(5): 473-480.
Nelis et al. (2006) Eur J Hum Genet 4(1): 25- 33.
Azzedine, Bontoux, and LeGuern (Updated October 2015). Charcot-Marie-Tooth Neuropathy Type 4C. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
Boyer et al. (2011) The New England Journal Of Medicine 365 (25):2377-88 (PMID: 22187985).
Jordanova et al. (2006) Nature Genetics 38 (2):197-202 (PMID: 16429158).
McLaughlin et al. (2012) Hum Mutat 33(1): 244-253.
Ito (Updated June 2012). BSCL2-Related Neurologic Disorders/Seipinopathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.o
Claeys et al. (2009) Brain 132:1741-1752.
Harms et al. (2012) Neurol 78:1741-1720.
Poirier et al. (2013) Nat Genet 45(6): 639.
Saporta et al. (2011) Ann Neurol 69(1): 22-33.
Bird (Updated April 2014). Charcot-Marie-Tooth Neuropathy Type 4. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
Capponi et al. (2011) J Peripheral Nervous System 16: 287-294.
Irobi et al. (2004) Hum Molec Genet 13(2): R195-R202.
Bird (Updated July 2014). Charcot-Marie-Tooth Neuropathy Type 2. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
Weterman et al. (2012) Hum Molec Genet 21(2): 358-370
Guernsey et al. (2010) PLoS Genetics 6(8): 1-7
Reilly et al. (2011) J Periph Nervous System 16: 1-14
Baets et al. (2011) Brain 134: 2664-2676.1
Kim and Kim (Updated June 2013). Charcot-Marie-Tooth Neuropathy X Type 5 In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.or
Davidson et al. (2012) J Neurol 259: 1673-1685.
Horga et al. (2015) J. Neurol. 262 (8):1984-6 (PMID: 26194197).
Guenther et al. (2007) Hum Mut 28(8): 808-815.
Boyer et al. (2011) The New England Journal Of Medicine 365 (25):2377-88 (PMID: 22187985).
Jordanova et al. (2006) Nature Genetics 38 (2):197-202 (PMID: 16429158)
Siskind et al. (2013) Journal of genetic counseling 22 (4):422-36 (PMID: 23604902).
Vallat et al. (2013) Current opinion in neurology 26 (5):473-80 (PMID: 23945280).
Murphy et al. (2012) Journal of neurology, neurosurgery, and psychiatry 83 (7):706-10 (PMID: 22577229).
Bird (Updated March 2014). Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genete
Bird (Updated February 2014). Charcot-Marie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2010. Available at http://www.genetests.org
Bird (Updated May 2010). Hereditary Neuropathy with Liability to Pressure Palsies. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.ge
Al-Thihli et al. (2008) American journal of medical genetics. Part A 146A (18):2412-6 (PMID: 18698610).
Baets et al. (2011) Brain : a journal of neurology 134 (Pt 9):2664-76 (PMID: 21840889).
Shy, et al. (2006) Journal of the neurological sciences 242 (1-2):55-66 (PMID: 16414078).
Zuchner (Updated August 2013). Charcot-Marie-Tooth Neuropathy type 2A. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2010. Available at http://www.genetests.org.
Chung et al. (2006) Brain 129: 2103-2118.
Verhoeven et al. (2006) Brain 129: 2093-2102.
Bird (Updated March 2013). Charcot-Marie-Tooth Neuropathy X Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2010. Available at http://www.genetests.org.
Reilly et al. (2011) Journal of the peripheral nervous system: JPNS 16 (1):1-14 (PMID: 21504497).
Saporta et al. (2011) Annals of neurology 69 (1):22-33 (PMID: 21280073).
Bird (Updated May 2010). Hereditary Neuropathy with Liability to Pressure Palsies. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
Bird (Updated July 2013). Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
McLaughlin et al. (2012) Hum Mutat 33(1): 244-253.
Claeys et al. (2009) Brain 132:1741-1752.
Harms et al. (2012) Neurol 78:1741-1720.
Poirier et al. (2013) Nat Genet 45(6): 639.
Bird (Updated March 2015). CharcotMarie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org
Bird (Updated March 2015). CharcotMarie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
Saporta et al. (2011) Ann Neurol 69(1): 22-33
Siskind et al. (2013) J Genet Counsel 22: 422-436.
Capponi et al. (2011) J Peripheral Nervous System 16: 287-294.
Irobi et al. (2004) Hum Molec Genet 13(2): R195-R202.
Bird (Updated April 2015). Charcot-Marie-Tooth Neuropathy Type 2. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org..
Weterman et al. (2012) Hum Molec Genet 21(2): 358-370.
Guernsey et al. (2010) PLoS Genetics 6(8): 1-7.
Reilly et al. (2011) J Periph Nervous System 16: 1-14.
Baets et al. (2011) Brain 134: 2664-2676.
Vallat et al. (2013). Curr Opin Neurol 26(5): 473-480.
Nelis et al. (2006) Eur J Hum Genet 4(1): 25-33
Kim and Kim (Updated June 2013). Charcot-Marie-Tooth Neuropathy X Type 5 In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
Davidson et al. (2012) J Neurol 259: 1673-1685.
Azzedine, Bontoux, and LeGuern (Updated July 2010). Charcot-Marie-Tooth Neuropathy Type 4C. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http:/
Moizard et al. (2010) Clin Genet 79(3): 243-253.
Ito (Updated June 2012). BSCL2-Related Neurologic Disorders/Seipinopathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org
Blumen et al. (2012) Ann Neurol 71: 509-519.
Kuhlenbaumer G, Timmerman V, Bomont P (Updated June 2012). Giant Axonal Neuropathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.gen
Mehta (Updated March 2011). Fabry Disease. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
Guenther et al. (2007) Hum Mut 28(8): 808-815.
Rossor et al. (2012) J Neurol Neurosurg Psychiatry 83: 6-14.
Kim et al. (2013) Orphanet J Rare Dis 8:104
Zuchner et al. (2006) Am J Hum Genet 79(2): 365- 369.
Beetz et al. (2012) Am J Hum Genet 91: 139-145.
Howard et al. (2002) Nat Genet 32: 384-392
Ishiura et al. (2012) Am J Hum Genet 91: 320-329.
Sekijima et al (Updated January 2012). Familial Transthyretin Amyloidosis. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.or
Durr et al. (2004) Arch Neurol 61: 1867-1872
Guelly et al. (2011) Am J Hum Genet 88:99-105
Klein (Updated May 2012) DNMT1- Related Dementia, Deafness, and Sensory Neuropathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.gen
Auer-Grumbach et al. (2006) NeuroMolecular Medicine 8: 147-159.
Riviere et al. (2011). Am J Hum Genet 89: 219-230.
Faber et al. (2012) Ann Neurol 71(1): 26-39.
Rotthier et al. (2010) Am J Hum Genet 87: 513-522.
Lo Giudice et al. (2014) Exp Neurol 25: 518-39.
Horga et al. (2015) J. Neurol. 262 (8):1984-6 (PMID: 26194197)
Foley et al. (2014) Brain : A Journal Of Neurology 137 (Pt 1):44-56 (PMID: 24253200)
Boyer et al. (2011) The New England Journal Of Medicine 365 (25):2377-88 (PMID: 22187985)
Goizet et al. (2009) Human Mutation 30 (2):E376-85 (PMID: 18853458)
Jordanova et al. (2006) Nature Genetics 38 (2):197-202 (PMID: 16429158).