Chromosome analysis – Karyotype (Peripheral Blood)

Testing Laboratory

Auckland Te Toka Tumai | Auckland Hospital

Department

Diagnostic Genetics

Delphic Registration Code (Alpha Code)

DGEN

Test Code (Numeric Code)

4218

Laboratory Handling

Registration

Place the sample into the box labelled DGEN on shelf next to the dumbwaiter.

Sample Stability

All samples must be collected using sterile technique. Same day delivery or overnight (8-24 degrees C).

Synonyms

Karyotype
G-banded karyotype
Cytogenetics
Chromosome analysis
Blood karyotype
Constitutional studies
Chromosomes

Turnaround Time

28 days

TAT for urgent cases - 5 days

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• Lithium Heparin - Non-gel (Green Cap)

Acceptable

• Lithium Heparin PST- Gel (Light Green Cap)

Preferred Sample Volume (ml)

4

Minimum Sample Volume (ml)

4

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• Heparin (Microtainer)

Preferred Sample Volume (ml)

2

Minimum Sample Volume (ml)

1

Additional Specimen Information

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.

For samples referred from overseas: the sample needs to be received by the laboratory within 3 days of collection and should be kept at 4 degrees C during transportation.

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Analysis and interpretation of this assay require accurate knowledge of the patient’s biological sex. To support the delivery of high-quality results, please ensure the patient’s biological sex is correctly recorded on all referrals for this test.

Test Method

Samples are cultured and processed for G-banded Karyotype analysis to identify numerical abnormalities and/or structural rearrangements, such as translocations, deletions, insertions and inversions.

The number of cells analysed and counted are based on the NPAAC guidelines.

Limitations / Interference

Micro-deletions/duplications (below 5-8MB) and cryptic translocations may not be excluded.

IMPORTANT NOTE: Karyotype is not the same as Molecular Karyotype (Microarray).
* Karyotypes to be registered as DGEN. Only register as DNAT if Molecular Karyotype, Array, Microarray and Whole genome array.

Contact Information