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26384 Cystic Fibrosis (CF), 97 variants (481025)

Cystic Fibrosis (CF), 97 variants (481025)
Test Code: CF97SO
Synonyms/Keywords

​​​​CF Carrier

CF Testing

481025

Test Components

​Testing for 97 cystic fibrosis mutations, including all of the mutations currently recommended by the ACMG and ACOG.

Useful For

Determine affected or carrier status for 97 CF gene mutations. This assay may be used for individuals whose family history or ethnicity requires testing for less common mutations. Also available for routine screening of pregnant couples.

Discriminates between p.F508del and the following polymorphisms: F508C, I506V, and I507V p.F508C, p.I506V, and p.I507V.

Specimen Requirements

Specimen TypePreferred Container/Tube

​Acceptable Container/Tube


​Specimen Volume

Whole blood

EDTA Lavendar Top Tube (LTT); or yellow-top (ACD-A) tube​

​EDTA Pink Top Tube (PTT)
​4 mL
Collection Processing Instructions

Maintain specimen at room temperature or refrigerate at 4°C

Special Instructions:

Prenatal testing: Integrated Genetics clients should call 800-848-4436 to speak to a laboratory genetic coordinator before collecting any specimens. In some circumstances, specimens from other family members may be required. All prenatal specimens (including cord blood) must be accompanied by a maternal blood specimen for maternal cell contamination studies. 

Specimen Stability Information

Maintain specimen at room temperature or refrigerate.

Rejection Criteria

Frozen specimen

Hemolyzed specimen

Quantity not sufficient for analysis

Improper container​

Interference

False-positive results or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, erroneous representation of family relationships, or contamination of a fetal sample with maternal cells.

Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation

Labcorp

​Sunday through Saturday​7-10 days​DNA is isolated from the sample and tested for the 97 CF mutations listed. Regions of the CFTR gene are amplified enzymatically and subjected to a solution-phase multiplex allele-specific primer extension with subsequent hybridization to a bead array and fluorescence detection. Some mutations are then specifically identified by bidirectional dideoxysequencing.
Reference Lab
LabCorp of America
Reference Range Information

An interpretive report will be provided

Interpretation

​An interpretive report will be provided

Outreach CPTs
CPTModifier
(if needed)		QuantityDescriptionComments
​81220​​1​CFTR gene analysis; common variants​
Synonyms/Keywords

​​​​CF Carrier

CF Testing

481025

Test Components

​Testing for 97 cystic fibrosis mutations, including all of the mutations currently recommended by the ACMG and ACOG.

Ordering Applications
Ordering ApplicationDescription
​Cerner​Cystic Fibrosis (CF), 97 variants (481025)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements

Specimen TypePreferred Container/Tube

​Acceptable Container/Tube


​Specimen Volume

Whole blood

EDTA Lavendar Top Tube (LTT); or yellow-top (ACD-A) tube​

​EDTA Pink Top Tube (PTT)
​4 mL
Collection Processing

Maintain specimen at room temperature or refrigerate at 4°C

Special Instructions:

Prenatal testing: Integrated Genetics clients should call 800-848-4436 to speak to a laboratory genetic coordinator before collecting any specimens. In some circumstances, specimens from other family members may be required. All prenatal specimens (including cord blood) must be accompanied by a maternal blood specimen for maternal cell contamination studies. 

Specimen Stability Information

Maintain specimen at room temperature or refrigerate.

Rejection Criteria

Frozen specimen

Hemolyzed specimen

Quantity not sufficient for analysis

Improper container​

Interference

False-positive results or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, erroneous representation of family relationships, or contamination of a fetal sample with maternal cells.

Useful For

Determine affected or carrier status for 97 CF gene mutations. This assay may be used for individuals whose family history or ethnicity requires testing for less common mutations. Also available for routine screening of pregnant couples.

Discriminates between p.F508del and the following polymorphisms: F508C, I506V, and I507V p.F508C, p.I506V, and p.I507V.

Test Components

​Testing for 97 cystic fibrosis mutations, including all of the mutations currently recommended by the ACMG and ACOG.

Reference Range Information

An interpretive report will be provided

Interpretation

​An interpretive report will be provided

For more information visit:
Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation

Labcorp

​Sunday through Saturday​7-10 days​DNA is isolated from the sample and tested for the 97 CF mutations listed. Regions of the CFTR gene are amplified enzymatically and subjected to a solution-phase multiplex allele-specific primer extension with subsequent hybridization to a bead array and fluorescence detection. Some mutations are then specifically identified by bidirectional dideoxysequencing.
Reference Lab
LabCorp of America
For billing questions, see Contacts
Outreach CPTs
CPTModifier
(if needed)		QuantityDescriptionComments
​81220​​1​CFTR gene analysis; common variants​
For most current information refer to the Marshfield Laboratory online reference manual.