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 variant(s) in at-risk pregnancies

Ordering

729
4 weeks
2-5 mL Blood - Lavender Top Tube
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
For price inquiries please email zebras@genedx.com

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Ordering

TG77
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81175x1; 81185x1; 81302x1; 81321x1; 81404x1; 81406x2; 81408x2
Yes
Yes
For price inquiries please email zebras@genedx.com

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.