Microarray for Paediatrics | Genomic Diagnostics

Test description

Chromosome microarray (also known as molecular karyotyping) is the gold standard for the diagnostic investigation of autism spectrum disorder, learning difficulty, developmental delay and where there are clinical indications of congenital anomalies. This is an advanced genome-wide investigation used to detect sub-microscopic detect loss and/or gain of DNA that are associated with microdeletion and microduplication syndromes but are not readily detectable by conventional karyotype and/or fluorescence in-situ hybridisation (FISH).

Test information

Test name

Microarray in Paediatrics

Clinical indication

For the first line investigation of intellectual disability, developmental delay, autism, or in the presence of at least two congenital abnormalities.

Gene(s)

Genome-wide

Method

Chromosomal Microarray

Turn around time

4 -6 weeks

Medicare eligibility

73292 – Criteria applies

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

Blood: 6mL in EDTA tube

Newborn to 12 months: 1mL in paediatric EDTA tube

Special instructions

Request ‘Paediatric Microarray’ on referral form. Clinical details required.