Short Stature with Optic Nerve Atrophy and Pelger-Huët Anomaly (SOPH) Syndrome

Sponsored diagnostic testing programs for Short Stature with Optic Nerve Atrophy and Pelger-Huët Anomaly (SOPH) Syndrome

SOPH syndrome is characterized by short stature, optic nerve atrophy causing vision loss, and hematologic anomalies resembling Pelger-Huët anomaly. Additional neurologic or developmental symptoms may be present. Genetic testing confirms the diagnosis and guides monitoring and counseling.

1 program found for Short Stature with Optic Nerve Atrophy and Pelger-Huët Anomaly (SOPH) Syndrome

Programs

1 program
Invitae Unlock™

Invitae Inherited Retinal Disorders Panel

This program offers U.S. clinicians access to comprehensive genetic testing for patients with suspected inherited retinal diseases, including RP, CRD, LCA, Stargardt disease, and other IRDs. Testing is also appropriate for asymptomatic individuals with a family history of IRD or a known pathogenic variant in a relevant gene, supporting diagnosis, risk assessment, and patient management.

Ophthalmology
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Performing labInvitae | Labcorp