Deletion 1p36 syndrome, FISH, for Genetic Diagnosis

Deletion 1p36 syndrome, FISH, for Genetic Diagnosis
WSLH Department: Cytogenetics
WSLH Test Code:871F27
Includes:FISH analysis of 10 cells for deletion of two regions in 1p36
Methodology:**(CPT Codes: 88271x2, 88273)** Fluorescence in situ hybridization performed on metaphase cells using DNA probes (LSI p58/TelVysion 1p/LSI 1q25, tri color; Vysis, Inc) which is specific for two regions within 1p36 (CEB108/T7 and CDC2L2/FLJ13062) in the short arm of chromosome 1, simultaneously with a probe for 1q25 in the long arm of chromosome 1 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 1p36 associated with Deletion 1p36/Monosomy 1p syndrome; major phenotypic features include seizures, developmental delay, hearing loss, cardiac abnormalities (cardiomyopathy).
Contraindications: 
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 1p36 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 Deletion 1p36 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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