1p36 Deletion Syndrome
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%.
Whole blood in sodium heparin (green top) tube: minimum 5-10 ml
Shipping: Samples should be received on day of collection. Keep specimens at room temperature.
Turnaround Time: 7-10 days
CPT Codes: 88230, 88271x2, 88274, 88291
Consent Form: Peripheral Blood Chromosomes and FISH Consent [PDF]
Requisition Form: General Test Requisition [PDF]
Related Tests: Prenatal Microdeletion FISH Panel