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HelpTest Code LAB1757 Fibroblast Fanconi Anemia Breakage
Additional Codes
SK FANC
Clinical System Name
Fibroblast Fanconi Anemia Breakage
Synonyms
Fanconi, Skin; Fanconi Anemia; Fanconi's Anemia; Somatic mosaicism; FA
Clinical Utility
Chromosome breakage analysis is a test for assessing genomic instability and is used in the diagnosis of Fanconi Anemia (FA). The first step in FA diagnosis is to perform a breakage analysis on peripheral blood. However, some FA patients undergo a self-correction of cells in the hematopoietic lineage, resulting in a normal blood breakage study. In such a case, breakage analysis of skin fibroblasts is necessary to detect the increased breakage and radial formation. This phenomenon is known as somatic mosaicism. Fibroblast breakage studies may also be preferable for patients with very low white blood cell counts.
Sample Requirements
Specimen: Skin
Container(s): Fibroblast Transport Media
Preferred Vol: 3 mm3 full thickness skin biopsy obtained under sterile conditions or Two T-25 Flasks of Cultured Fibroblasts
Minimum Vol: None specified
Note:
Processing Instructions
Reject due to:
Spin: N
Aliquot: N
Temp: RT
Storage location: Keep sample at room temperature. Store specimen and labels in the Send Outs room temperature bucket.
*Note: If sending skin biopsy directly, the specimen must arrive at OHSU KDL no more than 24 hours after collection. Notify Send Outs immediately.
Off-site collection: Keep sample at room temperature.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Skin | Room Temp | |
| Refrigerated | Unacceptable | |
| Frozen | Unacceptable | |
| T-25 flasks |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | M - Sa | 28 d |
Performing Laboratory
Oregon Health and Sciences University (OHSU)
Knight Diagnostic Laboratories
2525 SW 3rd Ave, Ste 350
Portland, OR 97201
Phone Number: (855) 535-1522
Department
Department: Send Outs/Genetic
Phone Number: (206) 987-2563
Methodology
Method: Cells are cultured in the presence of the clastogens mitomycin C (MMC) and diepoxybutane (DEB). Metaphase chromosomes are prepared from each culture and stained with Wright stain. Fifty metaphases are scored from each culture for the presence of breaks and radial formations.
Analytical Volume: 3 mm3 Skin or Other Tissue
Limitations:
Reference Range
Interpretive report is provided.
Send Out Instructions
| Reference Test Name: | Breakage Analysis: Skin Chromosome Study |
| Reference Test Number: | 6080 |
| Instructions: |
Ship the specimen via FedEx Priority Overnight. The specimen must arrive at the lab no more than 24 hours after collection. OHSU accepts Saturday deliveries. |