1p36 Deletion Syndrome FISH Analysis

Test Description:

1p36 FISH (Fluorescence In Situ Hybridization) is offered for diagnosis of individuals with clinical features of 1p36 deletion syndrome (craniofacial abnormalities, developmental delay, hypotonia, learning disability, hearing loss, heart problems, seizures). The detection rate of FISH analysis for this disorder is approximately 95%.

Specimen Requirements:

Whole blood in sodium heparin (green top) tube: minimum 5-10 ml

This test can also be performed on prenatal specimens; see test "Prenatal Microdeletion FISH Panel"

Shipping: Ship at room temperature.

Turnaround Time: 7-10 days

CPT Codes: 88230, 88271x2, 88274, 88291

Consent Form: Postnatal Consent [PDF]

Requisition Form: General Test Requisition [PDF]