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Newborn Blood Karyotype

Karyotyping, Chromosome Analysis, Karyogram, Newborn Karyotype, Chromosome Studies, GBLNG, cytogenetics

Test Codes

EPIC: LAB6458 

Note: SNP chromosome microarray analysis should be considered prior to karyotype for any newborn with multiple congenital anomalies, the pattern of which does not suggest a specific known genetic disorder.

Department

Cytogenetics

Instructions

• This is a STAT test for newborn patients only. For all other patients, please see Peripheral Blood (Constitutional) 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: 1-2 mL whole blood in a Dark Green-top Sodium Heparin tube. (Minimum: 1.0 mL)

• Invert the tube several times to mix blood with the anticoagulant.
• Blood from a stillborn may be taken by heart puncture, or from the cord.
• 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: 1-2 mL whole blood, at room temperature (20-25°C or 68-77°F) or refrigerated (2-8°C or 36-46°F). (Minimum: 1.0 mL)

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.
• This test will only be performed once in a lifetime for a patient.

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 available within 7 days. Preliminary results available 48 to 72 hours of specimen receipt.
Newborn blood specimens and STAT requests are given a priority in processing and analysis to provide a rush result.

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.

Contacts

Last Updated

12/30/2022