DIGEORGE/SHPRINTZEN SYNDROME FISH (SBMF)

Code
000.0000
Name
DIGEORGE/SHPRINTZEN SYNDROME FISH (SBMF)
Category
None
Department
Send-Out
Start Date
Expiration Date
Synonyms
Deletion 22q11.2
CPT Codes
88271, 88273
Site
SBMF
Reference Test
45119
ATLAS Test Code

Specimen Information

Type

Green, Sodium Heparin

Volume

5.0 ml

Transport Info

Do not centrifuge
Do not remove plasma from cells
Room Temp

Fasting Required?
False
Patient Instructions

Reference Range

See Report

Methodology

Fluorescent In Situ Hybridization (FISH)

Clinical Significance

The patient's cells are studied by DNA PROBE (22q11.2). Normal results rule out most cases of Shprintzen or DiGeorge Syndromes. This test does not confirm the presence or absence of a probe/gene not yet produced or discovered in direct or indirect correlation to this syndrome or abnormality.

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