Autism Spectrum Disorders

Autism spectrum disorders (ASDs) are a group of severe neurodevelopmental disorders, in which patients show deficits in social interaction, impaired communication, repetitive behavior and restricted interests and activities. The prevalence of ASDs is rising, and it is estimated that 60 per 10,000 individuals currently have a form of ASD and 13 per 10,000 individuals have autism. ASDs include several clinically defined conditions, of which pervasive developmental disorder (not otherwise specified) and autistic disorder (‘classic’ autism) are the most common. Less frequent are Asperger syndrome, Rett syndrome, and childhood disintegrative disorder. Rett syndrome typically occurs in females and is characterized by loss of speech and purposeful hand use, microcephaly, seizures, ataxia, and stereotypic hand movements. Several atypical variants of Rett syndrome have been reported, including one that has an infantile onset of encephalopathy and spasms, followed by severe global developmental delay and intellectual impairment. Autism often appears to be associated with either macrocephaly or microcephaly. It is reported that 83% of patients with autism have a head circumference greater than the 50th percentile, and 24% have a head circumference above the 98th percentile.

Tests Available

Forms and Documents

Test Details

CDKL5
  • Confirmation of clinical diagnosis
  • Differentiation of CDKL5-related atypical Rett syndrome from classic Rett syndrome (in patients who tested negative for a MECP2 mutation)
  • Differentiation between de novo and familial cases
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

3051
6-7 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 315.3 Developmental speech or language disorder
  • 45.6 Infantile spasms
  • 318 Other specified mental retardation
  • 299 Pervasive developmental disorders
  • 299 Pervasive developmental disorders
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. Van Esch H et al., Am J Med Genet A. 2007;143(4):364-9
  2. Kalscheuer VM et al., Am J Hum Genet. 2003;72(6):1401-11
  3. Mari F et al., Hum Mol Genet. 2005;14(14):1935-46
  4. Evans JC et al., Eur J Hum Genet. 2005;13(10):1113-20
  5. Tao J et al., Am. J. Hum. Genet. 75: 1149-1154, 2004
  6. Weaving LS et al., Am J Hum Genet 2004; 75:1079-1093
  7. Rosas-Vargas H et al., J Med Genet 2008; 45: 172-178
  8. Archer HL et al., J Med Genet 2006; 43:729-734

Forms and Documents

Test Details

PTEN
  • 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

Billing

81321x1, 81323x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Eng, C. Hum Mutat. 22: 183-98, 2003
  2. Marsh, D.J. et al. Hum Mol Genet. 7: 507-15, 1998
  3. Zhou, X.P. et al. Am J Hum Genet. 73: 404-11, 2003
  4. Pezzolesi, M. et al. Hum Mol Genet. 16: 1058-71, 2007
  5. Zhou, X.P. et al. Hum Mol Genet. 9: 765-8, 2000
  6. Zhou, X.P. et al. Lancet. 358: 210-1, 2001
  7. Barker, K. et al. J Med Genet. 38: 480-1, 2001
  8. Smith, J.M. et al., J Med Genet. 39: 937-40, 2002

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with autism or intellectual disability
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

952
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81302x1, 81321x1, 81404x2, 81405x2, 81406x2, 81407x2, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. CDC (Centers for Disease Control and Prevention) (2014) Morbidity and Mortality Weekly Report 63(SS02) 1-21; www.cdc.gov/mmwr
  2. Mefford et al., (2012) NEJM 366(8): 733-743 (PMID: 22356326)
  3. Miller et al.., (2010) Am J Hum Genet 86(5): 749-64 (PMID 20466091)
  4. Schaefer et al., (2013) Genet Med 15(5): 399-407 (PMID: 23519317)
  5. Farwell et al. (2015) Genet. Med. 17 (7):578-86 (PMID: 25356970)
  6. Lee et al. (2014) Jama 312 (18):1880-7 (PMID: 25326637)
  7. Posey et al. (2015) Genet. Med. : (PMID: 26633545)
  8. Retterer et al. (2015) Genet. Med. : (PMID: 26633542)
  9. Wright et al. (2015) Lancet 385 (9975):1305-14 (PMID: 25529582)
  10. Lopez-Rangel et al., (2008) Br J Dev Disabil 54: 69-82 (no PMID)
  11. Fitzgerald et al. (2015) Nature 519 (7542):223-8 (PMID: 25533962)
  12. 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
  13. Yang et al. (2014) JAMA 312 (18):1870-9 (PMID: 25326635)