22q11.2
DiGeorge/VCF: (22q11.2) FISH Analysis
Key Information
Lab:
TAT:
28 days
Price:
$584
CPT Code(s):
88275, 88273, 88271, 88291
Test Code:
C22Q
DiGeorge/VCF: (22q11.2) FISH Analysis
FISH analysis for DiGeorge/Velocardiofacial (VCF) syndrome is a cytogenetic test used to identify deletions or duplications in chromosome region 22q11.2. FISH is also utilized to confirm microdeletions identified during high resolution chromosome analysis.
Please note the standard turnaround time is 28 days, but is reduced to 7 days for infants.
DiGeorge syndrome, Velocardiofacial (VCF) syndrome
Clinical Information
DiGeorge/Velocardiofacial (VCF) syndrome is characterized by congenital heart defects, palatal abnormalities, immune deficiency, facial dysmorphism, and learning differences. FISH can identify ~95% of individuals with this condition. A microarray is indicated if the deletion breakpoints are outside the probe’s target area.
Technical Information
Fluorescence in situ hybridization (FISH) is a molecular cytogenetic technique in which fluorescently labeled DNA probes are hybridized to metaphase spreads or interphase nuclei. FISH should be used in conjunction with G-banded chromosome analysis or microarray. FISH is performed upon request when a specific numerical or structural abnormality or microdeletion is suspected. FISH is also utilized to confirm microdeletions identified during high resolution chromosome analysis and to aid in identification of abnormal chromosomes.
Specimen Requirements
The accepted sample type is 3-4 ml of whole blood collected in a sodium heparin (green top) tube. For newborns and small infants, 2-3 ml of blood in a sodium heparin tube is acceptable. Blood kits are available by request.
Transport Instructions
Whole blood should be kept at room temperature and sent by courier or overnight shipping to arrive at the laboratory the next day. Do not freeze or refrigerate the specimen.
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC