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Diagnostic Services

Genetics Lab

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

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

Processing
Keep sample at room temperature or refrigerated

Shipping
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.
Cost:
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