Detection of Chromosome Imbalance in Paediatric and Adult Referrals

Array Comparative Genomic Hybridization (array CGH) is a technique for detecting genetic copy number changes across the entire genome. It has a much higher resolution than traditional G-banded chromosome analysis (0.12 vs 5-10 Megabases) and includes probes for all the established subtelomere and microdeletion/duplication syndrome regions, which previously would have required additional tests using FISH or MLPA. Array CGH will not detect balanced chromosome rearrangements or ploidy abnormalities such as triploidy.
Clinical details: 
This test is applied as the initial approach for any patient suspected of having an unbalanced chromosome abnormality and is therefore suitable for investigating genetic causes of learning difficulties, dysmorphism and congenital physical abnormalities.
Synonyms or keywords: 
Karyotyping, G-banded chromosome analysis, Chromosomes, aCGH, array CGH, Chromosome, Duplication, Deletion, Trisomy, Monosomy, Karyotype.
Sample type and Volume required: 
Peripheral blood in an EDTA bottle (5ml (2 - 3ml from babies)), DNA sample (3ug)
Turnaround time: 
Urgent referrals 8-14 days. Non-urgent referrals 2 - 6 weeks.
Special sample instructions: 

DNA extracted using Chelex/Instagene methods is not suitable for this test.

Storage and transport: 
Samples should arrive within 72 hours.
On application
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 07/08/2015