Chromosome analysis (karyotype), Tissue

Diagnostic Use

Detection of microscopically visible chromosome rearrangements (>10Mb) for cases of suspected mosaicism, including tissue-specific aneuploidy such as trisomy 8, Pallister-Killian syndrome [i(12)(p)]

PLEASE NOTE: karyotyping of Fetal Tissues and Products of Conception to investigate fetal loss is no longer routinely performed at this laboratory. Where clinically relevant, testing is now performed firstly by QF-PCR, to screen for common aneuploidy and maternal cell contamination, followed by a MICROARRAY if QF-PCR result is normal.

Indications for QF-PCR+Microarray:

• Recurrent miscarriage (defined as ≥ 3)

• Abnormalities on U/S or abnormal fetal phenotype

• Family history of a chromosomal rearrangement

Department

Genetics - Cytogenetics

Delphic Registration Code

CTGN

Synonyms

Chromosome analysis of tissue
Fetal tissue, cytogenetics
Fibroblast tissue culture
Placenta tissue, chromosomes
POC, chromosomes

Turnaround Time

28 days

Test Code

3608

Specimen Type

• Tissue

Specimen Requirements

Tube/Container Type:

Preferred

• RPMI (Tissue)

Additional Specimen Information

Solid Tissue should be collected aseptically in RPMI Tissue Transport Medium in a universal container. In an emergency, the specimen can be collected into sterile saline.
To order transport medium phone the CHL patient and client services 03 364 0484 between 09.00-17.00, Mon-Fri and allow at least one working day for delivery.

Tissue smaller than 1cm x 1cm should be collected aseptically into sterile transport medium (see above).
Larger specimens can be sent dry in a sterile pottle, without delay.
DO NOT REFRIGERATE OR FREEZE

Aliquot Instructions

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Transport to lab ambient. DO NOT REFRIGERATE OR FREEZE.

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

Solid tissue is cleaned, finely chopped and cultured in growth medium for approximately 5-15 days and then harvested at the metaphase stage of the cell cycle when chromosomes are most condensed and visible by light microscopy.

Microscopic analysis (karyotyping) is performed on G-banded chromosome preparations.

Note this test is no longer routinely performed for investigations into FETAL LOSS. Please see below and refer to QF-PCR and Microarray tests for further details. Alternatively contact the lab 03 364 0881.

Non-Funded Test Cost

$651.56 (Exclusive of GST)

Billing Code

3608

Additional Costing Information

Urgent testing by arrangement

Contact Information

Enquiry Form