X-Chromosome High Density Array

Indications This thorough analysis of regions across the X chromosome may identify the causes of numerous X-linked genetic conditions and cases of unexplained intellectual disability and/or other anomalies.
  • 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
Indications
  • 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.
Turnaround time

26 days
In some cases, parental samples may be requested to clarify results.

CPT Codes 81228
Cost $1650
Contact For further information contact Kellie King, MS, Lab Counselor or Barb DuPont,PhD, Cytogenetics Laboratory Director at 1-800-473-9411

Cytogenetics Lab

The Cytogenetics Lab provides high quality analysis for the detection of both constitutional chromosomal aberrations as well as abnormalities related to hematological malignancies

Find out more