Microarray, Peripheral blood

Diagnostic Use

A chromosomal microarray (CMA) is used to detect very small genomic changes. It is recommended as the first-tier genetic test for unexplained developmental delay or intellectual disability, autism spectrum disorders or multiple congenital anomalies. The diagnostic yield for such disorders is around 15%–20%.

Turnaround times: Routine: 28 days; Neonate/urgent: 10 days; Family follow-up: 6 weeks

The CMA provides a genome-wide analysis of DNA copy number changes, with targeted probe coverage in disease-associated regions. It detects microduplications and microdeletions around 100 times smaller than those seen by conventional G-band chromosome analysis (karyotype). The inclusion of single nucleotide polymorphism (SNP) probes in the microarray design enables the detection of large regions of homozygosity, which can indicate uniparental disomy or recessive disease.
This test does not detect Fragile X or sequence-based changes, low level mosaicism, or balanced chromosome rearrangements.


Genetics - Cytogenetics

Delphic Registration Code


Laboratory Handling


Please ensure a separate tube is taken for this test. EDTA is ESSENTIAL for this testing. Lith hep is optional


EDTA is ESSENTIAL for this testing - send to MOLP. Lith hep is OPTIONAL - send to CTGN if received


Chromosomal microarray
Molecular karyotype

Turnaround Time

28 days

Test Code