Lab Test

Newborn Blood Karyotype

Chromosome Testing, Karyotyping, Chromosome Analysis, Karyogram, Newborn Karyotype, Chromosome Studies , EPIC: LAB6458, SOFT: GBLNG,

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.

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. (Min: 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. 

FedEx Shipping Instructions

Transport 1-2 mL whole blood (minimum: 1.0 mL) at room temperature. If the specimen will not be received at the testing laboratory within 48 hours of collection, transport refrigerated. Do not fix or freeze the specimen.

Read our complete shipping instructions.

Physician Office/Drawsite 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). (Min: 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.

Performed

Monday - Friday, 8:00 a.m. - 5:00 p.m.
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, 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.

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.

Test Codes

EPIC: LAB6458, SOFT: GBLNG,

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.

Last Updated

7/11/2019

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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.