TCF4 gene sequencing for Pitt-Hopkins syndrome
CMH Lab Section
Pitt-Hopkins syndrome is characterized by mental retardation with absent speech, a characteristic facial gestalt (a coarse face with a broad and beaked nasal bridge, a large mouth with a bowed shaped upper lip, wide mouth, cup-shaped, fleshy ears) and typical breathing abnormalities with episodes of voluntary hyperventilation and apnea starting in childhood. Pitt-Hopkins syndrome is due to haploinsufficiency of the TCF4 gene.
1-3 mL blood in EDTA lavender tube
Turn Around Time
DNA sequencing of the TCF4 coding region (exons 2-19)
See interpretative report