Chromosome Analysis, High Resolution (Blood)

Test Information

High resolution chromosome analysis requires the use of elongation methods to obtain a high percentage of prophase and prometaphase spreads. The chromosomes are less condensed than in routine metaphase analysis, and the number of identifiable bands is expanded, allowing a more sensitive analysis of the karyotype. This type of study is required for the detection of subtle chromosome rearrangements, and it is considered an important component in the diagnosis of microdeletion syndromes such as Prader-Willi syndrome, Angelman syndrome, Smith-Magenis syndrome, and Miller-Dieker syndrome. For high resolution chromosome analysis a minimum of 20 cells are counted to determine the modal number and a minimum of 5 cells are analyzed for chromosomal abnormalities Because special culture conditions are required, high resolution studies must be specifically requested.

Turnaround Time

Standard: 21 days; STAT: 48 hours

CPT Code(s)

88230, 88262, 88289, 88291

Cost

$794

Specimen Requirements

3-5 ml of whole blood in a green top, sodium heparin tube.

Transport Instructions

Whole blood samples be shipped at room temperature overnight.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Chromosome, Chromosome Studies, Chromosomes, Cytogenetic Testing
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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