Chromosomal microarray analyses the whole genome at high resolution to detect copy number variants (CNVs), which are deletions or duplications of chromosomal material too small to be seen on a karyotype.
A SNP-based array also detects regions of absence of heterozygosity (AOH), which may indicate uniparental disomy or parental relatedness.
Diagnostic test in pregnancy. On fetal cells obtained by chorionic villus sampling or amniocentesis, this is a diagnostic test rather than a screening test.
Professional guidelines recommend chromosomal microarray as the first-tier test for these postnatal indications and for pregnancies with fetal structural anomalies. In pregnancies with fetal structural anomalies and a normal karyotype, it identifies a clinically significant change in about 6% of cases. In children with developmental delay or congenital anomalies, it gives a diagnosis in about 15 to 20% of cases, compared with about 3% for karyotyping.
DNA is extracted, labelled and hybridised to a high-density SNP microarray. Copy number and genotype data are analysed across the genome. Copy number variants are classified using the ACMG and ClinGen technical standards as pathogenic, likely pathogenic, of uncertain significance, likely benign or benign.
Each report is prepared by a qualified scientist, reviewed independently and signed out by an authorised specialist. Reports state the test performed, the regions analysed, the result and its interpretation, recommendations for follow-up and the limitations of the test.
Report: A signed report is sent to the referring doctor.
A genetic counsellor can explain what this test can and cannot show before it is done, and what the result means once it is available.
Prices depend on the test and clinical situation. Ask our team for current price information.
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