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The Greenwood Genetic Center’s Cytogenetics Laboratory is
offering a targeted oligonucleotide microarray for high resolution genomic
copy number analysis. This thorough analysis of regions throughout the
genome may identify the causes of numerous genetic conditions and cases of
unexplained mental retardation or other anomalies.
Our high density targeted array offers 105K features
providing exceptional resolution across the genome including:
- 43,000 features targeted to 85 constitutional
syndromes
- 9,500 features targeted to subtelomeric regions
- 29,500 features targeted to recombination hotspots
- 21,000 features spanning other genomic regions
CGH Oligonucleotide Microarray applications:
- Individuals with unexplained mental retardation,
developmental delay, dysmorphic features or other phenotypic anomalies
- Individuals with a suspicion of a chromosomal
abnormality or microduplication/deletion syndrome with a normal
karyotype
- Determining the size of duplication/deletion involved
in an unbalanced translocation
- Assessing possible cryptic duplications/deletions in
an individual with an apparently balanced karyotype, but with phenotypic
abnormalities
- This array includes coverage of genomic imbalances
linked to autism spectrum disorders (e.g., 16p11.2)
Specimen Requirements: 3-5ml peripheral blood
collected in an EDTA (lavender top) tube for DNA isolation and 3-5mls
peripheral blood collected in a sodium heparin (green top) tube for
metaphase chromosome isolation.
Transport: The specimen should be kept at room
temperature and delivered via overnight shipping. Do not freeze.
Analysis: FISH confirmation of any identified
abnormality with parental studies is available to clarify de novo vs.
inherited imbalances
Report: Results will be called to the referring
physician within 3-4 weeks. In some cases, parental samples may be requested
to clarify results. The final report will be mailed to the physician’s
office.
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