Chromosome Analysis, Blood, Abridged Examination for Familial Chromosome Rearrangements
| WSLH Department: | Cytogenetics |
| WSLH Test Code: | 803 |
| Availability: | Monday-Friday 7:45 AM - 4:30 PM, Saturday 7:45 AM - 12:00 PM |
| Turn-around Time: | Approximately 7-14 days, with an average of 13 days. RUSH specimens (with current at-risk pregnancy) reported by phone or fax in 4-5 days. (Reports are issued Monday-Friday, 7:45 AM - 4:30 PM) |
| Recommended Uses: | When a structural rearrangement is observed in analysis of amniotic fluid, chorionic villus sample, or child's blood, parental blood chromosome analysis is recommended to determine whether the abnormality is inherited or is de novo and to possibly aid in defining the chromosome rearrangement. |
| Contraindications: | This test is not for the identification of unknown chromosome abnormalities in patients with genetic disorders or for identification of chromosomal abnormalities associated with hematologic disorders. |
| Additional Tests Performed: |
| Patient Preparations: | |
| Specimen Requirements: | 1.5-2.5 ml whole blood collected in sodium heparin |
| 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 hours of collection. |
| Collection Kit/Container: | |
| 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. |
| 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
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| 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 including result of pre-natal or childs chromosome analysis, 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: | Result written using current International System for Human Cytogenetic Nomenclature (ISCN) and interpretation of results. |
| Limitations: | The cytogenetic methods used in this analysis do not routinely detect microdeletions or low level (<32%) mosaicism. |
| Additional Tests Recommended: | Fluorescence in situ hybridization analysis may be recommended to characterize chromosome abnormalities; if performed there will be an additional charge. |
| Additional Comments: |
| Methodology: | Microscopic analysis of high resolution (>550 band level) G-banded chromosomes. |
| Includes: | High resolution G-banded chromosome analysis of mitogen stimulated peripheral blood cells. Includes culture of blood cells, examination of 10 metaphase cells, and preparation of two karyograms. |
| CPT Code: | 88230, 88261 |
| Price: | For pricing information, please call 608-262-0402. |