Peripheral Blood (Constitutional) Karyotype
Chromosome Testing, Karyotyping, Chromosome Analysis, Karyogram, Blood Karyotype, Chromosome Studies
EPIC: LAB5919, SOFT: GBLGT,
Note: SNP chromosome microarray analysis should be considered prior to karyotype for any child with multiple congenital anomalies, (the pattern of which does not suggest a specific known genetic disorder), autism/autism spectrum disorder, developmental delay/intellectual disability, or seizures.
- For newborn patients, please see Newborn Blood Karyotype.
- Samples should be drawn as early in the day as possible so they can be delivered to the Laboratory the same day.
- Clinical indications and tentative diagnosis must accompany any request for chromosome analysis. Also include name, age and sex of patient.
- For further instructions or clarifications, contact the Cytogenetics Laboratory at Beaumont Hospital, Royal Oak: 248-551-9030 or 248-551-9029.
Specimen Collection Criteria
Collect: 6.0 mL whole blood (minimum: 3.0 mL) in a Dark Green-top Sodium Heparin tube (adults) or 1-2 mL whole blood (minimum: 1.0 mL) in a Dark Green-top Sodium Heparin tube (children).
- Invert the tube several times to mix blood with the anticoagulant.
- A copy of the requisition must be sent with the specimen.
Physician Office/Draw Specimen Preparation
If a specimen is obtained too late in the day to be delivered, it could be stored at room temperature (20-26°C or 68-78.8°F) or in a refrigerator (2-8°C or 36-46°F) and sent the next day. Do not heat or freeze the blood sample.
Preparation for Courier Transport
Transport: Whole blood, at room temperature (20-26°C or 68-78.8°F) or refrigerated (2-8°C or 36-46°F). (Minimum: 3.0 mL adult or 1.0 mL pediatric)
- Frozen specimens.
- Clotted or hemolyzed specimens.
- Specimens over 72 hours old.
- Specimens drawn using an improper anticoagulant or were not maintained under sterile conditions.
Specimens are processed immediately upon receipt in the Laboratory.
Specimen Stability for Testing:
Room Temperature (20-26°C or 68-78.8°F): 24 hours
Refrigerated (2-8°C or 36-46°F): 72 hours
Frozen (-20°C/-4°F or below): Unacceptable
Specimen Storage in Department Prior to Disposal:
Refrigerated (2-8°C or 36-46°F): 7 days. A backup cell pellet is maintained for three weeks past sign-out of the final report.
Royal Oak Cytogenetics Laboratory
Monday – Friday, 8:00 am – 5:00 pm.
Results are available within 2 weeks.
Interpretation is provided with the report.
Detailed G-banded chromosome analysis and written interpretation of the karyotype.
Special procedures: If the specimen requires special testing for microdeletions, subtelemeric deletions, cryptic rearrangements and other conditions that are not readily identifiable by G-banding or high resolution study, molecular cytogenetic study should be requested (FISH). Clinical indications and identification of a syndrome must be given for the application of specific molecular probes.
This test is used to evaluate congenital malformations, stillbirth, mental retardation, growth retardation, infertility, cryptorchidism, hypogonadism, amenorrhea (primary), abnormal/ambiguous genitalia, recurrent miscarriage, Turner syndrome, Klinefelter syndrome, Down syndrome, and other suspected chromosomal disorders.
Cytogenetics Laboratory – RO
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This directory currently reflects information only for specimens collected and/or processed at the
Farmington Hills, Grosse Pointe, Royal Oak, and Troy campuses.