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Genomic Microarray Analysis—Array Comparative Genomic Hybridization (aCGH)


Definition


  • This technology uses probes covering the entire genome and can detect chromosome abnormalities up to 10 times smaller than those detectable by conventional chromosome analysis.

Use


  • Detection of chromosome abnormalities (copy number changes; e.g., deletion, duplication) up to 10 times smaller than can be detected by conventional chromosome analysis
  • Detection of abnormalities that may be causal for developmental delay, autism, and congenital anomalies. Some laboratories are offering aCGH for prenatal diagnosis.
  • Cancer-appropriate arrays are also in clinical use.

Interpretation


  • Normal: Two copies for all tested sequences in diploid cells
  • Abnormal: Copy number < or >2

Limitations


  • aCGH cannot detect balanced rearrangements that may play a role in repeat pregnancy loss and cancer.
  • Interpretation of results is not always straightforward; some detected imbalances may be of no clinical significance. Variant databases are in development.
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