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ARRAY-CGH

Information

The method of array based comparative genomic hybridization or Array-CGH is based on simultaneous hybridization of patient- and reference-DNA to a DNA-chip (array). It enables the detection of copy number deviations in the whole patients’ genome. These are losses or gains of genomic segments compared to normal individuals. The pathogenicity of these changes and the clinical relevance for the patiens phenotype is assessed based on the current state of knowledge. Often, microdeletion- or microduplication syndromes associated with variable phenotypes are only unequivocally diagnosed after Array-CGH.

Array-CGH-diagnostics

Clinical indications for high resolution Array-CGH:

  • mental retardation
  • growth related anomalies (e.g. microcephaly, microsomia, macrocephaly, macrosomia)
  • facial dysmorphies (z.B. hypertelorism, anomalies of nose or ear)
  • congenital malformations (e.g. cardiac defects, general malformations)
  • seizures
  • behavioral occurrences
  • speech delay

 

Array-CGH can be utilized for further characterization of:

  • imbalance interval mapping of cytogenetically detected losses or gains
  • imbalance mapping for structural rearrangements of questionable balanced constellation

 

Furthermore we offer:

  • prenatal Array-CGH
  • Array-CGH-analyses of products of conception

 

Material:

– 3-5 ml fresh EDTA-blood
– product of conception
– amniotic fluid
– DNA

CONTACT PERSON

Dr. phil. Päivi Forsblom
M.Sc. Genetik

 

 

089 / 54 86 29 - 0

089 / 54 86 29 - 243

paeivi.forsblom@synlab.com

 

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