Chromosome Analysis, Blood, for Genetic Diagnosis Print

WSLH Department: Cytogenetics
WSLH Test Code: 801
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 reported by phone or fax in 2-3 days. (Reports are issued Monday-Friday, 7:45 AM - 4:30 PM)
Recommended Uses: Determination of patients karyotype for: congenital anomalies, growth delays, developmental delays, syndrome identification, atypical sexual development, infertility, history of pregnancy loss, family history of chromosome abnormality, etc.
Contraindications: This test is not for the identification of chromosome 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
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: 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 (<20%) mosaicism.
Additional Tests Recommended: Array comparative genomic hybridization is recommended as a first tier analysis for individuals with multiple congenital anomalies, non-syndromic intellectual and developmental disability, and autism spectrum disorders.
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 at least 20 metaphase cells, and preparation of two karyograms. Additional cells may be examined if indicated by referring diagnosis or initial results. Additional karyograms may be prepared if multiple cell lines are observed.
CPT Code: 88230, 88262, 88289
Price: For pricing information, please call 608-262-0402.
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