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
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.