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Test ID: FBC
Fibroblast Culture for Genetic Testing

Secondary ID A test code used for billing and in test definitions created prior to November 2011

80333

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

N/A

Useful For Suggests clinical disorders or settings where the test may be helpful

Producing fibroblast cultures that can be used for genetic analysis

 

Once confluent flasks are established, the fibroblast cultures are sent to other laboratories, either within Mayo Clinic or to external sites, based on the specific testing requested.

 

This test should be used when the specimen is chorionic villi or when cytogenetic testing is needed. For other specimen types and any other genetic testing, we recommend ordering FIBR/8482 Fibroblast Culture, as these specimens are cryopreserved indefinitely once testing is complete.

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Fibroblast or chorionic villus culture for cytogenetic or molecular genetic testing only. The additional test(s) desired must be indicated on the request form that accompanies the specimen.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Cell Culture

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Fibroblast Culture for Genetic Test

Aliases Lists additional common names for a test, as an aid in searching

Cell culture, fibroblasts
Culture for Genetic Testing, Chorionic Villus/CVS
Culture for Genetic Testing, Fibroblasts
Culture for Genetic Testing, Products of Conception/Stillbirth/Autopsy
Culture for Genetic Testing, Tissue
Fibroblast culture for genetic testing
Genetic Testing Culture, Chorionic Villus/CVS
Genetic Testing Culture, Fibroblasts
Genetic Testing Culture, Tissue
Genetic Testing, Culture, Products of Conception/Stillbirth/Autopsy
Saving Cells for Possible Genetic Testing

Specimen Type Describes the specimen type needed for testing

Tissue

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.

Provide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.

 

Forms: If not ordering electronically, submit a Cytogenetics/AFP Congenital Disorders Request Form (Supply T238) with the specimen. 

Advise Express Mail or equivalent if not on courier service.

 

Submit only 1 of the following specimens:

 

Specimen Type: Autopsy

Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), Ringer's solution, or normal saline

Specimen Volume: 4-mm diameter

Collection Instructions:

1. Wash biopsy site with an antiseptic soap.

2. Thoroughly rinse area with sterile water.

3. Do not use alcohol or iodine preparations.

4. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.

                                                                                                                                                                                          

Specimen Type: Chorionic villi

Container/Tube: 15-mL tube containing 15 mL of transport media

Specimen Volume: 20-30 mg

Collection Instructions:

1. Collect specimen by the transabdominal or transcervical method.

2. Transfer the chorionic villi specimen to a Petri dish containing transport medium (Supply T095).

3. Using a stereomicroscope and sterile forceps, assess the quality and quantity of the villi and remove any blood clots and maternal decidua.

 

Specimen Type: Products of conception or stillbirth

Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), Ringer's solution, or normal saline

Specimen Volume: 1 cm(3) of placenta (including 20 mg of chorionic villi) and a 1 cm(3) biopsy specimen of muscle/fascia from the thigh

Collection Instructions: If a fetus cannot be specifically identified, collect 50 mg villus material or tissue that appears to be of fetal origin.

Additional Information: Do not send entire fetus.

Forms: Final Disposition of Fetal/Stillborn Remains form (if fetal specimen is sent) in Special Instructions.

                                          

Specimen Type: Skin biopsy

Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), Ringer's solution, or normal saline

Specimen Volume: 4-mm diameter

Collection Instructions:

1. Wash biopsy site with an antiseptic soap.

2. Thoroughly rinse area with sterile water.

3. Do not use alcohol or iodine preparations.

4. A local anesthetic may be used.

5. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.

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.

Chorionic Villi: 5 mg/Products of Conception: 10 mg chorionic villi and 1 cm(3) muscle/fascia

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

Hemolysis

NA

Lipemia

NA

Icterus

NA

Other

NA

 

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 TypeTemperatureTime
TissueRefrigerated (preferred)
 Ambient 

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Fibroblast cells may be used to perform a wide range of laboratory tests. Prior to testing, the tissue may need to be cultured to obtain adequate numbers of cells.

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.

Not applicable

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Prior to obtaining chorionic villus specimens (CVS) for specific cytogenetic testing, it is crucial to identify a laboratory that will perform testing for the disorder in question and establish that they will perform the study on cultured CVS or fibroblasts.  

 

Including clinical information provided with the specimen is very useful. This allows the laboratory to identify and verify the correct testing to perform.

 

Interfering factors

Technical:

-Inadequate amount of specimen (we recommend 20 mg of CVS) may not permit adequate analysis

-Exposure of the specimen to temperature extremes (freezing or >30 degrees C)

-Improper packaging may result in broken, leaky, and contaminated specimens during transport

-Extended transport time

-In products of conception/autopsy/stillbirth specimens, a lack of viable cells or bacterial contamination (this occurs in approximately 20% of spontaneously aborted products of conception), or a long delay between fetal death and the miscarriage

 

Biological:

-It is difficult to differentiate between maternal and fetal cells in some specimens. Culturing of maternal cells rather than fetal cells can cause discrepant results.

Clinical Reference Provides recommendations for further in-depth reading of a clinical nature

Spurbeck JL, Carlson RO, Allen JE, Dewald GW: Culturing and robotic harvesting of bone marrow, lymph nodes, peripheral blood, fibroblasts, and solid tumors with in situ techniques. Cancer Genet Cytogenet 1988;32:59-66

Method Description Describes how the test is performed and provides a method-specific reference

Products of Conception/Autopsy/Stillbirth/Skin Biopsy

The biopsy specimen is cut into small pieces, treated with collagenase, and placed in a tissue culture flask with Chang's and MEM alpha-medium, 20% fetal bovine serum, and antibiotics to establish a fibroblast culture. The cultures are trypsinized into 1 to 3 T25 tissue culture flasks or 1 to 2 T75 tissue culture flasks.

 

Chorionic Villi

The chorionic villi is thoroughly cleaned using sterile forceps to remove the remaining maternal decidua and blood clots. The villi are then treated with trypsin and collagenase. The cells are grown in Chang and MEM-alpha medium for 5 to 10 days. (Dewald G: Chromosome study of autopsy tissues. In Current Methods of Autopsy Practice. 2nd edition. Edited by WJ Ludwig Philadelphia, PA, WB Saunders Co, 1979, 155-159)

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, 8 a.m.-5 p.m. 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.

41 days

Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result

42 days

Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Until reported

Performing Laboratory Location The location of the laboratory that performs the test

Rochester

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.

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

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.

88233-Tissue culture, skin, or solid tissue biopsy

88240-Cryopreservation

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 IDReporting NameLOINC Code
16167Specimen31208-2
16337Specimen IDN/A
CG030SourceN/A
16168Order DateN/A
CG033Reason For Referral42349-1
16172MethodIn Process
16175Interpretation69965-2
16176AmendmentIn Process
16177ConsultantN/A
16178Report DateN/A