CYSTIC FIBROSIS (CF) PROFILE 32 MUTATIONS DNA ANALYSIS
General Information
HLAB/HOL Code: CYSCN
UPHSM LIS Test #: 026733
Schedule:
Testing Time: 7-10 Days
Testing Lab: Labcorp
UPHSM LIS Test #: 026733
Schedule:
Testing Time: 7-10 Days
Testing Lab: Labcorp
Specimen Info
Only 1 specimen type required, unless otherwise specified
Volume: 7.0 (3.0) mL
Temperature: Ambient
Tube Type: Whole blood
Collection Info:
Specimen: Whole blood or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)
Minimum Volume: 3 mL whole blood
Container: Lavender-top (EDTA) tube, yellow-top (ACD) tube
Special Instructions: Whole blood tube should be sent to the lab UNOPENED. It is preferable not to perform additional testing on original tubes prior to PCR testing. A completed screening questionnaire must accompany specimens. Form is available on the LabCorp test menu website or by calling 800-345-4363 with any questions.
Temperature: Ambient
Tube Type: Whole blood
Collection Info:
Specimen: Whole blood or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)
Minimum Volume: 3 mL whole blood
Container: Lavender-top (EDTA) tube, yellow-top (ACD) tube
Special Instructions: Whole blood tube should be sent to the lab UNOPENED. It is preferable not to perform additional testing on original tubes prior to PCR testing. A completed screening questionnaire must accompany specimens. Form is available on the LabCorp test menu website or by calling 800-345-4363 with any questions.
Volume: 2 Swabs
Temperature: Ambient
Tube Type: LabCorp Buccal Swab
Collection Info:
Minimum Volume: Two buccal swabs
Temperature: Ambient
Tube Type: LabCorp Buccal Swab
Collection Info:
Minimum Volume: Two buccal swabs
Specimen Acceptability
Cause for Rejection:
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab
Methods
Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis
Clinical Utilities
Use:
Help determine affected or carrier status for the 32 most common CF mutations
Limitations:
This assay detects as many as 90% of cystic fibrosis carriers in the Caucasian population. Within other ethnic groups, there may be higher or lower detection efficiency. Includes the mutation profile currently recommended by the ACMG and the ACOG.
Additional Information:
Cystic fibrosis (OMIM 602421) is a common genetic disorder resulting in chronic pulmonary and gastrointestinal/pancreatic disease. There is wide variability in clinical symptoms. CF is inherited in a recessive manner, which means that both parents must be carriers to have an affected child. When both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected. Genetic counseling and CF molecular testing are recommended for the reproductive partners and at-risk family members of CF carriers.
Help determine affected or carrier status for the 32 most common CF mutations
Limitations:
This assay detects as many as 90% of cystic fibrosis carriers in the Caucasian population. Within other ethnic groups, there may be higher or lower detection efficiency. Includes the mutation profile currently recommended by the ACMG and the ACOG.
Additional Information:
Cystic fibrosis (OMIM 602421) is a common genetic disorder resulting in chronic pulmonary and gastrointestinal/pancreatic disease. There is wide variability in clinical symptoms. CF is inherited in a recessive manner, which means that both parents must be carriers to have an affected child. When both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected. Genetic counseling and CF molecular testing are recommended for the reproductive partners and at-risk family members of CF carriers.
CPT Codes
81220
* The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding
is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Reference Range
See Report Sent
