Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Cytogenetics and Cytogenomics Laboratory 1p36 Deletion Syndrome

1p36 Deletion Syndrome

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

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