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Diagnostic Services

Genetics Lab


Chromosome Analysis, Skin Fibroblast

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

Test Name: Chromosomes - Skin Fibroblast
Test Code:
Test Description:
Routine karyotype performed on cultured fibroblasts or other solid tissue.
fibroblast karyotype, Turner, Turner Syndrome, Down Syndrome, Trisomy 21, Klinefelter syndrome, Trisomy 13, Trisomy 18, Patow syndrome, Cat Eye syndrome
This test is usually performed when mosaicism is suspected.
Related Tests: Peripheral Blood Karyotype  

Clinical Links:
Can be collected daily; set up Mon - Fri
Turnaround Time:
4-6 weeks
Routine G-band analysis
Reference Range:
Interpretive report provided
Consent Form:
Sample Requirements: Type
Skin biopsy: 2 - 4 mm skin punch biopsy
Fibroblasts: 2-T25 flasks

Keep sample at room temperature or refrigerated

Ship overnight at room temp or with cold pack.
Samples Received:
Special Considerations:
Submit sample in appropriate medium. Call if any questions. Specify skin biopsy site. Keep sample sterile and at room temperature or refrigerated; do not freeze. Refrigerate if sample transport is delayed. Test request form must be completed by the ordering provider. Patient clinical history and testing information is required.
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