Chromosomal Microarray (CMA) Familial Testing, FISH
Use
This test is used for determining the inheritance pattern of copy number changes previously identified by chromosomal microarray analysis in a patient. It aids in the clinical interpretation of the pathogenicity of the copy number change. Parental studies are often necessary to determine if detected changes are clinically significant by assessing if it's inherited from clinically normal parents or if it is a de novo change, which is more likely to be pathogenic.
Special Instructions
Consultation with the laboratory is required prior to submitting a specimen if the initial patient (proband) was tested elsewhere. Failure to contact the laboratory prior to ordering may result in test cancellation. Completion of the Family Member Phenotype Information for Genomic Testing form is required.
Limitations
The results of this test may be of uncertain clinical significance. If the copy number change identified in a patient is below the level of resolution of FISH analysis, CMA studies will be required. This test will include charges for application of the first probe set and professional interpretation of results. If no cells are available for analysis, no analysis charges will be incurred.
New York Approved
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
LOINC Codes
- 50397-9
- 62356-1
- 62378-5
- 69965-2
- 42349-1
- 31208-2
- 85069-3
- 18771-6
- 48767-8
- 62364-5
Result Turnaround Time
9-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
1 mL
Container
Green top (sodium heparin)
Collection Instructions
Invert several times to mix blood. Other anticoagulants are not recommended and are harmful to the viability of the cells.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |