Pitt Hopkins Syndrome

Pitt-Hopkins syndrome (PHS) is characterized by severe intellectual disability with absent or severely delayed speech that is often associated with breathing abnormalities, stereotypic movements, seizures, microcephaly and a characteristic facial gestalt consisting of coarse facial features, deep-set eyes, a broad or beaked nasal bridge, a large mouth with a tented upper lip and widely spaced teeth, and cup-shaped ears with a thick helix. Ataxia, short stature, constipation, gastroesophageal reflux, strabismus, and nonspecific abnormalities on brain MRI have also been described. 

Tests Available

Forms and Documents

Test Details

CDKL5, CNTNAP2, FOXG1, MBD5, MECP2, MEF2C, NRXN1, SLC9A6, TCF4, UBE3A, WDR45, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • 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
* For price inquiries please email zebras@genedx.com

References

  1. de Siquiera et al., (2010) J Neurol 257:1612-1619
  2. Shawan et al., (2005) Lancet Neurol 4:239-248.
  3. 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:
  4. 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
  5. 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.
  6. Bennett S. (2004) Pharmacogenomics 5:433-8.
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  10. Velinov et al., (2012) PloS One 7:e29729.
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  12. Dibbens et al., (2009) Ann Neurol 66:532-536.
  13. Berkovic et al., (2008) Am J Hum Genet 82:673-684.
  14. Corbett et al., (2011) Am J Hum Genet 82:673-684.
  15. Lomax et al., (2013) Brain 136:1146-1154.
  16. Grapp et al., (2012) Brain 135:2022-2031.