Skip to main content

Diagnostic Services

Genetics Lab


Chromosome Analysis, Peripheral Blood

Chromosomes contain the thousands of genes in the human genome that direct cellular processes controlling growth, development, and functioning of the human body. Gains or losses in chromosome content lead to alterations in gene function and disrupt these vital cellular processes. This can result in mental retardation or other developmental abnormalities, birth defects, and many well-characterized genetic syndromes.

This test will detect abnormalities in chromosome number, large chromosomal duplications and deletions and other large structural rearrangements.

Test Name: Peripheral Blood Karyotype
Test Code:
Test Description:
High resolution G-band analysis of chromosomes at the 650 band level.
High resolution karyotype, routine karyotype, Turner, Turner Syndrome, Down Syndrome, Edward syndrome, Trisomy 21, Klinefelter syndrome, Trisomy 13, Trisomy 18, Patow Syndrome, Cat Eye Syndrome
This test is appropriate for an individual with any of the following findings:
-developmental delay
-congenital abnormality
-known or suspected family history of chromosome abnormality
-recurrent miscarriage.
Related Tests: Chromosomes - Skin Fibroblast  
This test is appropriate as a follow-up test to peripheral blood chromosomes when mosaicism is suspected

Cytogenetics Familial Study  

Clinical Links:
Drawn daily
Turnaround Time:
1-3 weeks
High resolution G-band analysis
Reference Range:
Interpretive report provided
Consent Form:
Sample Requirements: Type
Whole Blood: adults: 3-5 ml infants: 1-2 ml Green (heparin) top tube.

Keep at room temperature

Ship overnight at room temperature
Samples Received:
Mon - Fri 8:00am - 5:00 pm PST
Special Considerations:
Please e-mail Client Services or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Client Services or call at 206-987-2617 with any billing questions