Who should be tested for RB1 gene mutations?

On the recommendation of a doctor or genetic counselor, we test:

Bilaterally affected individuals
Send blood sample and fresh or frozen tumor sample if available.

Unilateral affected individuals with affected relatives
Send blood sample and fresh or frozen tumor sample if available.

Unilateral affected individuals with NO affected relatives
Send two samples, blood and fresh or frozen tumor.

Unaffected relatives of a proband whose mutation is identified
Send blood sample.

Unilaterally affected, no fresh or frozen tumor and no family history 
For unilateral patients with no family history of retinoblastoma and for whom no fresh or frozen tumor sample is available, we work in consultation with the family's referring specialist to identify a mutation, if it is carried in the blood, as efficiently as possible. This analysis will either identify a germline mutation, or else reduce the risk of a germline mutation from 15% to less than 2%.

Documentation: With samples, please send payment or insurer's commitment to pay, completed requisition form, and signed consent form.