X Chromosome High-Density Array

Laboratory studies request form | CPT Codes/Price List (PDF)

The Greenwood Genetic Center offers a high density X chromosome array for high resolution copy number analysis. This thorough analysis of regions across the X chromosome may identify the causes of numerous X-linked genetic conditions and cases of unexplained mental retardation and/or other anomalies.

The Greenwood Genetic Center’s high density X array offers:

105K probes providing exceptional resolution across the X chromosome
Density of one probe every 1.6 kb
Gene-centric design – one probe every 500bp for all known gene loci including 5 kb of flanking regions
FISH confirmation of any identified abnormality with parental studies available to clarify de novo vs. inherited imbalances
Complete clinical report with interpretation by laboratory director
Laboratory director and staff are available to answer any questions

Chromosome X array applications:

Individuals with features and a family history consistent with an X-linked disorder
Females at risk of being a carrier for an X-linked disorder
To determine the size of duplication/deletion involved in an unbalanced translocation involving the X chromosome
To refine the breakpoint of previously identified X chromosome deletions or duplications

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.