CYSTIC FIBROSIS CARRIER SCREENING
Cystic Fibrosis
Carrier Screening
Test Code 900616
CPT Codes*: 83891, 83900, 83901 (x13), 83909,
83912, 83914 (x32) OR 81220**
Offering Cystic Fibrosis
Carrier Screening to all
your patients can help
them prepare.
CF carrier screening may provide many
important benefits to patients
CF carrier screening can help patients:
• Know that they are receiving comprehensive medical care
• Understand their risk of having children with CF
• Know whether further testing may be needed
• Be better informed about family planning
Offering CF carrier screening is now
considered the standard of care for
all patients who are pregnant or
planning pregnancy1,2
• Make early decisions, such as where to deliver their baby
Offering CF carrier screening is recommended
by a professional consensus of ACOG (American
College of Obstetricians and Gynecologists),
ACMG (American College of Medical Genetics),
and the NHGRI (National Human Genome
Research Institute).1-4
CF carrier screening has benefits
for physicians, too
and what support groups are available
• Prepare to anticipate the needs of a child with CF,
including accommodations at home and getting an early
diagnosis, which can help improve quality of life
Following the ACOG/ACMG/NHGRI recommendations
for CF carrier screening can help physicians:
• Provide their patients with important information
• Empower the patient to make informed decisions
“Information about cystic fibrosis screening
should be made available to all couples. It is
reasonable to offer cystic fibrosis carrier
screening to all couples regardless of
ethnicity as an alternative to selective
screening.”1
• Practice the current medical “standard of care” and
be deemed as such in a legal proceeding2
With CF carrier screening, more
mutations are not necessarily “better”
• Use of a universal screening panel of 32 CF
transmembrane regulator (CFTR) gene mutations is
recommended by ACOG and ACMG1,2,5,6
• ACOG and ACMG agree that expanded panels have no role
in carrier screening as routine initial or follow-up tests2,5
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• The Sonora Quest Laboratories CF carrier screen is FDA
cleared to detect gene mutations that are known to
cause disease
Sonora Quest Laboratories supports OB/GYNs in providing their patients
with the highest standard of care and important health information
We’ll help you start the conversation about CF carrier screening...
• Cystic Fibrosis is a genetic disease that may affect many important systems in the body,
causing problems with breathing and digestion, and may significantly shorten lifespan1,7
• All couples should receive information about CF carrier screening, and CF carrier
screening should be offered to all couples, regardless of race or ethnicity 1
• A positive screening result can guide the choice for follow-up testing to evaluate risk1
• With each pregnancy, a woman and man who are both carriers of a mutation in the CF
gene have a 1-in-4 chance of having a baby with CF 1
• A negative screening result may reduce, but cannot completely eliminate, the risk
that a person is a CF carrier 1
...and follow through with 866.GENE.INFO (available
exclusively through our one of our parent companies:
Quest Diagnostics) for:
• Assistance for clinicians with patient counseling and case management
• Expert interpretive assistance with positive results
• Collection and review of patient medical and family information
• Coordination, tracking, and management of all prenatal specimens
• Obtaining assistance regarding any genetic disorder
Call now to speak to a genetic counselor who is prepared
to answer your questions or direct you to resources that
can provide more information.
* 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 Payor being billed.
**The 2012 AMA CPT codebook contains Tier 1 and Tier 2 Molecular Pathology Procedures as well as Molecular Pathology Procedures
to be coded by procedure rather than analyte. Please direct any questions regarding coding to the payor being billed.
1. American College of Obstetricians and Gynecologists. “Update on carrier screening for cystic fibrosis.” ACOG Committee Opinion No. 325. Obstet Gynecol. 2005;106:1465-1468.
2. Grody WW, Cutting GR, Watson MS. “The cystic fi brosis mutation ‘arms race’: when less is more.” Gen Med. 2007;9(11):739-744.
3. NIH Consensus Statement Online. Genetic Testing for Cystic Fibrosis. Available at: http://text.nlm.nih.gov/nih/cdc/www/106txt.html. Accessed April 21, 2010.
4. NIH Consensus Statement. “Genetic testing for cystic fi brosis.” Arch Int Med. 1999:159:1529-1539.
5. Grody WW, Cutting GR, Klinger KW, et al. “Laboratory standards and guidelines for population-based cystic fi brosis carrier screening.” Gen Med. 2001;3(2):149-154.
6. Watson MS, Cutting GR, Desnick RJ, et al. “Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.” Gen Med. 2004;6(5):387-391.
7. Cystic Fibrosis Foundation. Care center network. http://www.cff.org/LivingWithCF/CareCenterNetwork/. Accessed May 24, 2010.
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