Test Background

Pitt-Hopkins syndrome is characterized by intellectual disability, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. This laboratory performs Sanger sequencing of the TCF4 gene.

Disorder(s)

Pitt-Hopkins syndrome

Gene(s)

TCF4

Lab Method

MLPA

Vital Information

Test Code:
C0265

Turnaround Time:
2-3 weeks

CPT Code:
81405×1

Billing

Forms and Documents