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

ATRX, CDKL5, CNTNAP2, CTNNB1, DDX3X, FOXG1, GABBR2, KCNA2, MBD5, MECP2, MEF2C, NRXN1, SATB2, SLC9A6, STXBP1, TBL1XR1, 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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

729
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2, 81406x2, 81302x1, 81304x1, 81404x1
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
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