Wolf-Hirschhorn syndrome, Deletion 4p16.3, WHS, FISH, for Genetic Diagnosis

Wolf-Hirschhorn syndrome, Deletion 4p16.3, WHS, FISH, for Genetic Diagnosis
WSLH Department: Cytogenetics
WSLH Test Code:871F33
Includes:FISH analysis of 10 cells for deletion of the WHS gene in 4p16.3
Methodology:**(CPT Codes: 88271, 88273)** Fluorescence in situ hybridization performed on metaphase cells using DNA probes (LSI WHS; Vysis, Inc) specific for 4p16.3 (WHS), simultaneously with a probe for the centromere of chromosome 4 (CEP 4) as a control.
Availability:Monday-Friday 7:45 AM - 4:30 PM, Saturday 7:45 AM - 12:00 PM
Turn-around Time:Approximately 10-14 days. (Reports are issued Monday-Friday 7:45 AM - 4:30 PM)
Recommended Uses:Detection of deletion 4p16.3 associated with Wolf-Hirschhorn syndrome; phenotypic features include seizures, developmental delay, cleft palate, congenital heart disease, characteristic facial appearance.
Specimen Requirements:1-2 ml whole blood collected in sodium heparin vacuum type tube
Collection Kit/Container: 
Patient Preparation: 
Collection Instructions:Draw blood using aseptic techniques into a sterile sodium heparin vacuum type tube. Invert tube to mix. If using larger tubes, draw to full volume to avoid over-treatment with heparin.
Specimen Handling and Transport:Store and transport specimens at room temperature (may transport with coolant during hot, >85 degrees, weather). Specimens must be received by the laboratory within 24 hours of collection.
Unacceptable Conditions:Blood that is collected in EDTA, sodium citrate, or other anti-coagulants is not acceptable. Blood that is clotted or hemolyzed is not acceptable. Blood must not be frozen. Plasma and serum are not acceptable.
Requisition Form:Cytogenetics Lab Genetic Diagnosis Form #131
Required Information:Laboratory regulations require the following minimum information to be provided on the requisition form for a specimen to be accepted for testing: Patient name or unique identifier; date and time of collection, patient date of birth and sex, specimen type/site of collection, test request(s), reason for referral, clinician name and UPIN/NPI, and address for reporting results. Please be certain that name/identifier on the form matches that on the specimen label.
Results include:Deletion 4p16.3 detected/not detected. Karyotype written using International System for Human Cytogenetic Nomenclature (ISCN) 2013 and interpretation of results.
Limitations:Very small deletions or point mutations are not detected by this assay. Negative FISH results do not rule out a diagnosis of Wolf-Hirschhorn syndrome.
Additional Tests Recommended:Blood chromosome analysis is recommended to look for other causes of the abnormal phenotype. The FISH analysis may be performed as an independent test if chromosome analysis was performed previously.
Additional Comments:If FISH assay is not performed in conjunction with chromosome analysis there is an additional charge for processing the specimen.
Additional Tests Performed: 

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