Chromosome analysis (karyotype), Peripheral Blood

Diagnostic Use

Detection of microscopically visible chromosome rearrangements greater than 5-10Mb. eg.
Balanced chromosome rearrangements such as translocations, and other chromosome rearrangements in couples with fertility issues.
Suspected sex chromosome aneuploidy eg. Turner syndrome Klinefelter syndrome, Triple X.
Strong clinical suspicion aneuploidy, eg. Trisomy 21.
Confirmation of abnormal rapid aneuploidy screen
Family follow-up of known chromosome rearrangement previously detected by karyotyping

Department

Genetics - Cytogenetics

Delphic Registration Code

CTGN

Laboratory Handling

Phlebotomy

Please ensure a separate tube is taken for this test

Synonyms

Chromosome analysis
Cytogenetics
Karyotype
G-banded karyotype
Blood karyotype

Turnaround Time

18 days

Test Code

3601

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• Lithium Heparin - Non-gel (Green Cap)

Preferred Sample Volume (ml)

5

No of Samples Required

1

Pre-testing Requirements

Please send without delay, ideally same day or overnight courier. Results may be compromised if blood is delayed in transport.

Additional Specimen Information

Please send without delay, ideally same day or overnight courier. Results may be compromised if blood is delayed in transport.
This test needs fresh, whole blood cells. The specimen must be well mixed.
Do NOT centrifuge or freeze the blood tubes and keep at ambient temperature.

Aliquot Instructions

Sample Type

• Whole Blood

Minimum Volume (ml)

5

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Analysis and interpretation of this assay requires knowledge of the biological sex of the patient being tested. Please assist us in delivering quality results by providing accurate biological sex information on all referrals for this testing.

Interpretation

Comment on report

Reference Intervals

Comment on report

Test Method

Blood is cultured for 2-4 days. Cells are harvested at the metaphase stage of the cell cycle when chromosomes are visible by light microscopy . Microscopic analysis (karyotyping) is performed on G-banded chromosome preparations.

Non-Funded Test Cost

$539.96 (Exclusive of GST)

Billing Code

3601

Turnaround Time: Urgent (neonate, pregnant) - 5 days, Non-urgent - 18 days

Contact Information

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