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HelpTest Code LABCOCRANA CONSTITUTIONAL CYTOGENETICS, CHROMOSOME ANALYSIS
Specimen and Container/Tube
Peripheral blood: EDTA and NaHep (dark green top)
Chorionic villus: Call the lab at 773-702-6203 for custom made collection and transport media
Amniotic fluid: Call the lab at 773-702-6203 for collection and transport containers
Products of conception: Call the lab at 773-702-6203 for custom made collection and transport media
Specimen Stability
Peripheral blood: Stable at room temperature up to 24 hours after collection.
Chorionic villus: Keep at room temperature if sample is delivered to the lab <24 hrs from collection. If transport delay is expected, keep at 4°C.
Amniotic fluid: Keep at room temperature if sample is delivered to the lab <24 hrs from collection. If transport delay is expected, keep at 4°C.
Products of conception: Keep at room temperature if sample is delivered to the lab <24 hrs from collection. If transport delay is expected, keep at 4°C.
Note: Prolonged transport to the laboratory diminishes cell viability and successful testing of all sample types.
Collection Instructions
UCMC Onsite Instructions
Prior to collection of Chorionic Villus, Amniotic Fluid and Products of conception specimens: Call Cytogenetics at 773-702-6203 for collection containers and media as needed.
DO NOT use AMBER TUBES for Amniotic Fluid. These can be toxic to fetal cells.
UCMC Offsite and UC MedLab Outreach Instructions
Prior to collection of Chorionic Villus, Amniotic Fluid and Products of conception specimens: Call Cytogenetics at 773-702-6203 for collection containers and media as needed.
Specimen Handling and Transport Instructions
UCMC Onsite Instructions
Peripheral blood can be tubed directly to Cytogenetics via tube station #345
CVS, Amniotic fluid and Products of Conception: Call Cytogenetics at 773-702-6203 immediately after collection for sample pick up. Preantal samples cannot be delivered in the tube station.
UCMC Offsite and UC MedLab Outreach Instructions
Chorionic Villus and Amniotic Fluid specimens: Arrange for independent courier to deliver specimens in provided collection tubes DIRECTLY to the Cytogenetics lab in Hyde Park. Notify the Cytogenetics lab at 773-702-6203 that a sample is being sent.
Products of conception specimens: Send specimen in provided media cup per routine transport methods.
Rejection Criteria
Peripheral blood: Specimens received in the laboratory >48 hours after collection; samples in incorrect anticoagulant, clotted, or hemolyzed
Chorionic Villus: Specimens received >72 hours after collection
Amniotic Fluid: Specimens received >72 hours after collection
Products of Conception: Specimens fixed in formalin; Non-pregnancy tissue (at the discretion of the section director or supervisor); Specimens received in the laboratory >1 week after collection
Reference Values
Results reported with current recommendations of the International Standing Committee on Human Cytogenomic Nomenclature (ISCN).
Clinical Indications
In the postnatal setting, Chromosome analysis is appropriate for individual with clinical features including infertility, multiple miscarriages, delayed puberty, ambiguous genitalia, amenorrhea, or individuals with
clinical features suggestive of an aneuploidy syndrome, including Down syndrome, Turner syndrome, Klinefelter syndrome, Trisomy 13 syndrome, and Trisomy 18 syndrome.
In the prenatal setting, chromosome analysis is appropriate when an individual is at increased risk for fetal aneuploidy based on: maternal age; abnormal noninvasive prenatal testing (NIPT); abnormal multiple marker screening; or abnormal fetal ultrasound or has a family history of chromosome abnormality or genetic disorder.
Indication for chromosome analysis of
products of conception include: pregnancy loss of unknown etiology; fetal anomalies; parental chromosome abnormality; clarification of ambiguous chromosomal findings; detection of chromosome rearrangements; failiure of tissue to grow in culture.
Test Components
Tissue culture
cell harvesting
slide preparation
GTG banding
chromosome counting and analysis
karyotype
interpretive report
CPT Codes
Peripheral blood: 88230, 88262, 88280
Chorionic Villus: 88235, 88262, 88280
Amniotic Fluid: 88235, 88267, 88280
Products of Conception: 88233, 88262, 88280
Methodology
GTG banding
Additional Information
Limitations: a routine chromosome analysis will not detect submicroscopic or molecular mutations, imprinting defects, chromosomal abnormalities below the stated resolution, or low levels of mosicism.
Last Review Date
4/17/2025
Ordering Notes
For questions about microarray testing email #UCM-Cytogenetics-Lab, or CytogeneticsLab@uchicagomedicine.org
Volume
Peripheral blood: Preferred: 1-3 mL in EDTA tube and 1-3 mL of in NaHep tube. Minimum: 1-3 mL NaHep tube.
Chorionic villus: Preferred: >40 mg of villi devoid of blood clots and maternal decidua Minimum: 10 mg Amount needed by test: chromosome analysis: 15-20 mg; Aneuploidy FISH: 5 mg; SNP array (direct): 15-20 mg
Amniotic fluid: Preferred: >40ml fluid devoid of red blood cells or clots. Minimum: 30 mL
Amount needed by test: chromosome anlaysis: 10-15 mL, Aneuploidy FISH: 5 mL, AFP, CMV, Toxo, etc: 5 mL, SNP Array (direct): 15mL
Products of conception: Preferred: 50 mg of villi devoid of blood clots and maternal decidua; Minimum: 10 mg
Turnaround Time
Peripheral blood: up to 28 days
Chorionic villus: up to 21 days
Amniotic fluid: up to 14 days
Products of conception: up to 42 days
Please note: Turnaround times can vary based on lab staffing. For urgent needs and requests to expedite testing, please email #UCM-Cytogenetics-Lab, or CytogeneticsLab@uchicagomedicine.org
Synonyms/Key Search Words
Karyotype, G-band, chromosomes