Miscellaneous Studies Using Chromosome-Specific Probes, FISH
Use
This test is primarily useful for the resolution of unusual or complex structural alterations, questionable mosaicism, and unbalanced chromosome abnormalities that cannot be resolved through chromosome or chromosomal microarray analysis. It aims to identify gain, loss, or rearrangement of chromosome regions using gene or locus-specific probes. The test is particularly significant in the context of malignant disorders, where conventional techniques may not completely characterize chromosome abnormalities.
Special Instructions
Not provided.
Limitations
The test cannot be used to completely characterize chromosome abnormalities on its own and is not suitable as an alternative to existing clinical and pathologic information. Performance characteristics have been determined consistent with CLIA requirements but have not been FDA cleared or approved. Unavoidably, some mailed-in specimens may not be viable, leading to delays or inability to conduct the test.
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Unknown CNV
Copy Number Region
LOINC Codes
- 62367-8 - Chrom analy pnl FISH
- 50397-9 - Mol dx interp Bld/T Ql
- 69965-2 - Clinical cytogeneticist review
- 93356-4 - Cells w cytogenetic abnl Bld/T
- 62356-1 - Chrom analy result (ISCN)
- 42349-1
- 31208-2 - Specimen source
- 80398-1 - Unique ID Current sample
- 85069-3 - Lab test method
- 48767-8 - Annotation comment Imp
- 18771-6 - Provider signing name
- 62364-5 - Test performance info Spec
Result Turnaround Time
9-10 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
20-25 mL
Minimum Volume
5 mL
Container
Amniotic fluid container
Collection Instructions
Optimal timing for specimen collection is during 14 to 18 weeks of gestation, but specimens collected at other weeks of gestation are also accepted. Provide gestational age at the time of amniocentesis. Discard the first 2 mL of amniotic fluid.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |
| Refrigerated | Refrigerated |