Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Cytogenetics and Cytogenomics Laboratory DiGeorge/Velo-Cardio Facial Syndrome FISH Analysis

DiGeorge/Velo-Cardio Facial Syndrome FISH Analysis

Test Description:
DiGeorge/Velo-cardio-facial syndrome, chromosome location 22q11.2, FISH (Fluorescence In Situ Hybridization) is offered for diagnosis of individuals with clinical features of DiGeorge/Velo-cardio-facial or 22q11 deletion syndrome (learning disabilities, cardiac defects, and psychiatric illness including schizophrenia and bipolar disorder) or in pregnancies with fetal heart defects. The detection rate of FISH analysis for this disorder is approximately 80%.

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:
Postnatal: 88230, 88271x2, 88274, 88291
Prenatal: 88235, 88271x2, 88274, 88291

Consent Form: Postnatal Consent [PDF]

Requisition Form: General Test Requisition [PDF]