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

DiGeorge Velo Cardio Facial Syndrome

Test Description:
DiGeorge/Velo-cardio-facial syndrome 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:
Blood: Whole blood in sodium heparin (green top) tube, minimum 5-10 ml
Amnio: minimum total specimen size 15cc
CVS: minimum total specimen size 4 mg

Shipping: Samples should be received on day of collection. Keep specimens at room temperature.

Turnaround Time: 7-10 days

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

Consent Form: Peripheral Blood Chromosomes and FISH Consent [PDF]

Requisition Form: General Test Requisition [PDF]

Related Tests: Prenatal Microdeletion FISH Panel