Children's Mercy Hospitals and Clinics
Name
TCF4 gene sequencing for Pitt-Hopkins syndrome

CMH Lab Section
Molecular Genetics

Clinical Description
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.

Specimen Requirements
1-3 mL blood in EDTA lavender tube

Availability
Routine

Turn Around Time
4 weeks

Methodology
DNA sequencing of the TCF4 coding region (exons 2-19)

Ranges
See interpretative report

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