Conventional Chromosome Analysis (Karyotype) in Paediatrics

Test description

Conventional chromosome testing is the applicable for the investigation of syndromes such as Down syndrome, Turner Syndrome and reproductive health.

Conventional cytogenetic analysis involves the analysis of the whole genome at the cellular level to detect large genomic changes and chromosomal rearrangements. This test involves culturing white blood cells to produce metaphase spreads of chromosomes, from which slides are prepared and representative cells are captured into digital images.

Test Name	Chromosomes Blood
Clinical Indication	For investigation of: 1. Down and Turner Syndrome 2. Follow-up testing by conventional analysis 3. Parental and family studies
Gene(s)	All Chromosomes
Method	Conventional chromosome analysis
Turn around time	35 days
Medicare Eligibility	73289
Sample Type	Blood
Collection Type	10mL Lithium Heparin; For Difficult/Paediatric Collect: Min 1mL
Special Instructions	Transport cooled or at room temperature

Test information

Test name

Conventional Chromosome Analysis (Karyotype) in paediatrics

Clinical indication

For investigation of:

1. For the investigation of chromosomal aneuploidy and rare chromosomal rearrangements

2. Follow up testing where conventional analysis is required

3. Family studies

Gene(s)

All Chromosomes

Method

Conventional chromosome analysis

Turn around time

35 days

Medicare eligibility

73289

Price

If not MBS eligible, please contact 1800 822 999 for pricing details

Test request form

Standard pathology request form

Sample type

Blood

Collection type

10mL Lithium Heparin; For Difficult/Paediatric Collect: Min 1mL

Special instructions

Transport cooled or at room temperature