Diagnosing TNPO2 Disorders

For the c.466 G>A variant of TNPO2 disorder, the first symptom appears prenatally: microcephaly can be observe on an ultrasound starting in the 3rd trimester. The severity of microcephaly increases as the pregnancy proceeds towards birth.

Screening via Prenatal Ultra Sound

Diagnosis via WGS or WES Testing

A definitive TNPO2 disorder diagnosis can only be made through genetic testing.

Your physician can order a WGS or WES from certified providers. These labs include (but are not limited to):

GeneDx
Invitae
Prevention Genetics

TNPO2 Foundation is unaffiliated with these companies and has no relationship with them.

If you do not have insurance coverage, TNPO2 Foundation can connect you with a testing service which provides WGS funded by philanthropic sources.

We would need confirmation of a microcephaly diagnosis to do so.