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Cytogenetics Constitutional

Karyotyping, Chromosome Analysis, Karyogram, Blood Karyotype, Chromosome Studies, genetic, GBLGT, cytogenetics, Peripheral Blood (Constitutional) Karyotype, Chromosome Analysis Constitutional

Test Codes

EPIC: LAB2111370

Department

Cytogenetics

Instructions

• For STAT 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)

Rejection Criteria

• Frozen specimens.
• Clotted or hemolyzed specimens.
• Specimens over 72 hours old.
• Specimens drawn using an improper anticoagulant or were not maintained under sterile conditions. 

In-Lab Processing

Specimens are processed immediately upon receipt in the Laboratory.

Storage

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.

Laboratory

Royal Oak Cytogenetics Laboratory

Performed

Monday – Friday, 8:00 am – 5:00 pm.
Results are available within 2 weeks.

Reference Range

Interpretation is provided with the report.

Test Methodology

Detailed G-banded chromosome analysis and written interpretation of the karyotype.

Special procedures: If the specimen requires special testing for microdeletions, subtelomeric 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.

Clinical Utility

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.

CPT Codes

88230, 88262

Contacts

Last Updated

3/18/2025