Chromosome analysis – Karyotype (Bone Marrow)

Testing Laboratory

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 the shelf next to the dumbwaiter.

Sample Stability

All samples must be collected using sterile technique and same day delivery (8-24 degrees C).

Associated Tests

• Chromosome analysis – Karyotype (Leukaemic Blood)
• Chromosome analysis – Solid tumours (Tissue)
• Multiple Myeloma FISH Studies (Bone Marrow)

Synonyms

Chromosome Analysis - Bone Marrow,
Bone Marrow Chromosomes,
Cytogenetics
Karyotype
G-banding

Turnaround Time

18 days

Urgent Cases 5 Days

Specimen Type

• Bone Marrow

Specimen Requirements

Tube/Container Type:

Preferred

• Please refer to Additional Information below

Acceptable

• Heparin (Microtainer)

Preferred Sample Volume (ml)

3

Minimum Sample Volume (ml)

2

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• Please refer to Additional Information below

Additional Specimen Information

Bone marrow aspirate (minimum 2mL in preservative free heparin): Collection tubes are available on request from the Cytogenetics laboratory. Mix well to avoid clotting. KCH specimens need to be delivered to the laboratory within 45 minutes of collection.

Bone marrow trephine: A single trephine specimen placed into transport media. Collection tubes containing transport media available on request from the Cytogenetics Laboratory. All trephine samples must be accompanied by a peripheral blood sample.

Do NOT refrigerate or freeze. Send same day or overnight.

Aliquot Instructions

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 and/or FISH testing. This provides whole-genome analysis detecting both numerical and structural abnormalities and permits the identification of clonal evolution and the presence of multiple clones.

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

Limitations: micro- deletions/duplications (below 5-10MB) and cryptic translocations may not be excluded.

Uncertainty of Measurement

Please contact the Diagnostic Genetics Pathologist at dgen@adhb.govt.nz to discuss sources of test uncertainty, which include, but are not limited to, measurement uncertainty (MU) and biological variation.

Contact Information