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Unit Code 9497:
Cystic Fibrosis Mutation Analysis, 70-Mutation Panel

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

Confirmation of a clinical diagnosis of cystic fibrosis

 

Risk refinement via carrier screening for individuals in the general

population

 

Prenatal diagnosis or familial mutation testing when the familial

mutations are included in the 70 mutation panel listed above (if

familial mutation[s] are NOT included in the 70 mutation panel,

order #88880 "CFTR Gene, Known Mutation")

 

Risk refinement via carrier screening for individuals with a family

history when familial mutations are not available

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

70-Mutation panel includes the 23 mutations recommended by

the American College of Obstetrics and Gynecology (ACOG).

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)

 Unit Code  Reporting Name  Available Separately  Always Performed 
80333 Fibroblast Culture for Genetic Test Yes No
80334 Amniotic Fluid Culture/Genetic Test Yes No

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

Note:  This testing algorithm only applies to prenatal

         testing.

If amniotic fluid (non-confluent cultured cells) is received, amniotic

fluid culture/genetic test will be added and charged separately. If

chorionic villus specimen (non-confluent cultured cells) is received,

fibroblast culture for genetic test will be added and charged

separately.

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

• Molecular Genetics - Congenital Inherited Diseases Patient Information Sheet 
• Informed Consent for DNA Testing 
• Cystic Fibrosis Molecular Diagnostic Testing Algorithm 

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

9497: The multiplex polymermase chain reaction (PCR)-based
assay from TM Bioscience is used to test for mutations
associated with cystic fibrosis (70 mutation panel).
(PCR is utilized pursuant to a license agreement with
Roche Molecular Systems, Inc.)
80333, 80334: Cell Culture
 
General Information:
See "Cystic Fibrosis Molecular Diagnostic Testing Algorithm"
in Special Instructions.

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

Cystic Fibrosis Mutation Panel

Ordering Mnemonic An alternate Mayo code (to the Unit Code) for a test

CFPB
CDCF

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

Carrier Detection for Cystic Fibrosis

CF (Cystic Fibrosis)

CFTR (Cystic Fibrosis Transmembrane Conductance)

Cystic Fibrosis Transmembrane Conductance (CFTR)

Cystic Fibrosis, Carrier Detection and Prenatal Diagnosis

Cystic Fibrosis, Prenatal Diagnosis

DNA Probe Analysis for Cystic Fibrosis

Soft-CFPB