15q11q13
Prader-Willi Syndrome: (15q11q13) FISH Analysis
Key Information
Lab:
TAT:
28 days
Price:
$584
CPT Code(s):
88275, 88273, 88271, 88291
Test Code:
CPWS
Prader-Willi Syndrome: (15q11q13) FISH Analysis
This cytogenetic FISH analysis for Prader-Willi syndrome (15q11q13)is useful 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.
Please note the standard turnaround time is 28 days, but is reduced to 7 days for infants.
Prader-Willi syndrome
Clinical Information
Prader-Willi syndrome is characterized by significant infantile hypotonia and feeding difficulties. In early childhood this transitions into excessive eating and morbid obesity. Developmental delay and behavioral problems are common features. Physical characteristics include hypogonadism, short stature, small hands and feet, almond shaped eyes, and hypopigmentation. Prader-Willi syndrome is caused by the lack of expression of the paternally derived region of chromosome 15 (15q11.2-q13). This lack of expression can be caused by a deletion of the paternal chromosome, maternal uniparental disomy (UPD) of chromosome 15 or more rarely, a defect in the imprinting region.
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