X and Y sex chromosomes, FISH, DXZ1 and DYZ3
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| WSLH Department: | Cytogenetics |
| WSLH Test Code: | 870F52 |
| Day(s) Performed: | Monday-Friday 7:45 AM - 4:30 PM, Saturday 7:45 AM - 12:00 PM |
| Turn-around Time: | Approximately 4-6 days. (Reports are issued Monday-Friday 7:45 AM - 4:30 PM) |
| Recommended Uses: | Determination of sex chromosome complement in individuals with ambiguous genitalia or suspected sex chromosome aneuploidy disorder. Must be performed in conjunction with chromosome analysis. Determination of sex chromosomes in patients who have received an opposite sex bone marrow transplant. May be performed in conjunction with other FISH assays, chromosome analysis or as an independent test. |
| Contraindications: | |
| Additional Tests Performed: |
| Patient Preparations: | |
| Specimen Requirements: | Bone marrow: 0.5-1.0 ml early aspirate bone marrow collected in sodium heparin OR Blood: 1-2 ml whole blood collected in sodium heparin vacuum type tube |
| Specimen Handling & Transport: | Store and transport specimens at room temperature (may transport with coolant during hot weather, >85 degrees F). DO NOT FREEZE. The laboratory must receive specimens within 24 to 48 hours of collection. |
| Collection Kit/Container: | |
| Collection Instructions: | ** Bone marrow: 0.5-1.0 ml bone marrow from the 1st or 2nd aspirate. Material submitted for cytogenetic analysis must be from an early aspirate to avoid dilution with blood. Rinse the syringe to be used for aspiration by drawing sodium heparin solution (1000 USP units/ml) into the syringe and then expelling all the heparin solution (over-heparinization is toxic to the cells). Transfer the marrow to a sterile, sodium heparin vacuum type tube for delivery to State Lab. If an aspirate is unsuccessful, a 10mm bone core biopsy may be submitted in a sterile transport medium with sodium heparin. ** Blood: Draw blood using aseptic techniques into a sterile sodium heparin vacuum type tube. Invert tube to mix. If using larger tubes, draw full tube of blood to avoid over-treatment with anti-coagulant. |
| Unacceptable Conditions: | Blood/Bone marrow that is clotted or hemolyzed is not acceptable. Blood/Bone marrow must not be frozen. Plasma and serum are not acceptable. |
| Requisition Form: |
Cytogenetics Lab Genetic Diagnosis Form #131
Cytogenetics Lab Neoplasia Diagnosis Form #132 |
| 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: | Sex chromosome signal pattern, percent observed, and the reference range based on the average number of cells with an abnormal signal pattern in two hundred control cells. Result written using current International System for Human Cytogenetic Nomenclature (ISCN) and interpretation of results. |
| Limitations: | Failure to identify an abnormal clone by FISH does not rule out the presence of other abnormalities in the specimen. |
| Additional Tests Recommended: | |
| Additional Comments: | If FISH assay is not performed in conjunction with chromosome analysis there is an additional charge for processing the specimen. |
| Methodology: | Fluorescence in situ hybridization performed on interphase nuclei using DNA probes (CEP X and CEP Y; Abbott Molecular) specific for the centromere of chromosome X (DXZ1) and the centromere of chromosome Y (DYZ3). These probes are designed to detect the copy number of the sex chromosomes. |
| Includes: | FISH analysis of 200 interphase cells for copy number of X and Y sex chromosomes using probes for the centromere of chromosome X (DXZ1) and the centromere of chromosome Y (DYZ3) |
| CPT Code: | 88271x2, 88275 |
| Price: | For pricing information, please call 608-262-0402. |