Chromosome Analysis, Chorionic Villus Sample, for Prenatal Genetic Diagnosis

WSLH Department: Cytogenetics
WSLH Test Code: 855
Availability: Monday-Friday 7:45 AM - 4:30 PM, Saturday 7:45 AM - 12:00 PM
Turn-around Time: Prelim. result from direct prep in 1-4 business days, Final result in approximately 7-14 days (longer for specimens with small volume or poor growth in culture). Reports issued M-F, 7:45 AM - 4:30 PM.
Recommended Uses: Determination of fetal karyotype for: Advanced maternal age, abnormalities observed on ultrasound examination, abnormal maternal serum screen, previous pregnancy with abnormal karyotype, parent with balanced chromosome rearrangement.
Additional Tests Performed:
Patient Preparations:
Specimen Requirements: 10-30mg chorionic villus sample
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: Using aseptic technique, obtain at least 10mg of chorionic villi, taken between 9-38 weeks of gestation. Contact the laboratory (608-262-0402) to order CVS kits.
[Kits include: 1 T-25 flask with 10ml F10 and 0.2ml sodium heparin, 1 test request form (#131), 1 Biohazard bag and absorbent pad. Store kits @4C for up to 1 year. If requested a UPS return label can be supplied with the kit.]
Unacceptable Conditions: A specimen with no fetal material identified and only maternal decidua present will be rejected.
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, gestational age, 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 small structural rearrangements, microdeletions, or low level (<20%) mosaicism. Viable cells may be maternally derived.
Additional Tests Recommended: Fluorescence in situ hybridization analysis may be recommended to characterize chromosome abnormalities; if performed there will be an additional charge. If a structural rearrangement is observed, 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. Array comparative genomic hybridization may be used to further characterize complex rearrangements as well as gains and losses.
Additional Comments:
Methodology: Microscopic analysis of G-banded chromosomes.
Includes: G-banded chromosome analysis of cultured cells from chorionic villus sample (CVS). Includes direct harvest preparation for specimens of at least 10mg, in situ culture of cells for all specimens, examination of a total of 20 metaphase cells (five from the direct preparation, if performed) from 15 independent colonies, and preparation of two karyograms. Additional cells may be examined if indicated by initial results. Additional karyograms may be prepared if multiple cell lines are observed.
CPT Code: 88235, 88267, 88280
Price: For pricing information, please call 608-262-0402.
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