Test ID: FCGHP
Array Comparative Genomic Hybridization (aCGH) Parental Testing, FISH
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Determining the inheritance pattern of copy number changes previously identified by aCGH analysis in a patient and aiding in the clinical interpretation of the pathogenicity of the copy number change.
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| ADD1F | One Additional FISH Probe | No | No |
| ADD2F | Two Additional FISH Probes | No | No |
| ADD4F | Four Additional FISH Probes | No | No |
| ADD3F | Three Additional FISH Probes | No | No |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, 1 to 4 FISH probes will be added at an additional charge.
Method Name A short description of the method used to perform the test
Fluorescence In Situ Hybridization (FISH)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Parental CGH follow up
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
If possible, provide the name of the child on the request form.
Container/Tube: Green top (sodium heparin)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Other anticoagulants are not recommended and are harmful to the viability of the cells.
Additional Information: Advise Express Mail or equivalent if not on courier service.
Forms: If not ordering electronically, submit a Cytogenetics/AFP Congenital Disorders Request Form (Supply T238) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | NA |
| Lipemia | NA |
| Icterus | NA |
| Other | Clotted blood |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| WB Sodium Heparin | Ambient (preferred) | |
| Refrigerated | ||
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Array comparative genomic hybridization (aCGH) is a method for detecting copy number changes (gains or losses) across the entire genome. When copy number changes are identified in a patient, parental studies are sometimes necessary to assess their clinical significance. Changes that are inherited from clinically normal parents are less likely to be clinically significant in the patient and de novo changes are more likely to be pathogenic.
To identify familial copy number changes in parents of previously tested patients, (FISH) testing is utilized. The parental results will provide the context for interpretation of the patient's aCGH results.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation Provides information to assist in interpretation of the test results
An interpretive report will be provided.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test is only used to confirm the presence of a specific copy number change in a family member after it has been identified by aCGH testing in a patient (see #88898 Array Comparative Genomic Hybridization (aCGH), Whole Genome, Constitutional).
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, aCGH studies will be required. In this circumstance, this test will be cancelled and #88898 Array Comparative Genomic Hybridization (aCGH), Whole Genome, Constitutional will be performed.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Shaffer LG, Kashork CD, Saleki R, et al: Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006 Jul;149(1):98-102
2. Baldwin EL, Lee JY, Blake DM, et al: Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med 2008 May;10:415-429
Method Description Describes how the test is performed and provides a method-specific reference
FISH using locus-specific probes targeted to the region of copy number gain or loss identified by the patient’s aCGH testing. Ten metaphases and 200 interphase nuclei are analyzed to determine if the region is duplicated and 15 metaphases to determine if the region is deleted. (Unpublished Mayo method)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Samples processed Monday through Sunday. Results reported Monday through Friday 8am-5pm CST
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
Array Comparative Genomic Hybridization (aCGH) Parental Testing, FISH
88271 x 2-DNA probe, each
88273-Chromosomal in situ hybridization
88291-Interpretation and report
One Additional FISH Probe
88271-DNA probe, each (if appropriate)
88275-Interphase in situ hybridization (if appropriate)
Two Additional FISH Probes
88271 x 2-DNA probe, each (if appropriate)
88275-Interphase in situ hybridization (if appropriate)
Three Additional FISH Probes
88271 x 3-DNA probe, each (if appropriate)
88275-Interphase in situ hybridization (if appropriate)
Four Additional FISH Probes
88271 x 4-DNA probe, each (if appropriate)
88275 x 2-Interphase in situ hybridization (if appropriate)
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 50990 | Specimen | 31208-2 |
| 50991 | Specimen ID | N/A |
| 50992 | Source | N/A |
| 50993 | Order Date | In Process |
| CG528 | Reason For Referral | 42349-1 |
| 50995 | Method | In Process |
| 50996 | Result | In Process |
| 50997 | Interpretation | 69965-2 |
| 50998 | Amendment | In Process |
| 50999 | Reviewed by | N/A |
| 51000 | Release Date | In Process |
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