[Date]
[Payer Name]
[Address]
[City, State, Zip code]
RE:
Ensuring Accurate Reimbursement for Cystic Fibrosis Genetic Testing in 2013 and Beyond
Dear Sir/Madam,
As you may be aware, American Medical Association (AMA) Current Procedural Terminology (CPT®1)
codes 83890–83914 for molecular diagnostic services have been retired as of January 1, 2013. In their
place, the AMA CPT established a new set of molecular pathology (MoPath) codes that laboratories such
as ours will be using to bill for molecular diagnostic tests moving forward. In light of this, [Lab Name]
would like to request clarification on [Payer Name]’s intended process to establish appropriate payment
rates for MoPath codes, in particular the following:
81220 CFTR (cystic fibrosis transmembrane conductance regulator) (e.g., cystic fibrosis) gene
analysis; common variants (e.g., ACMG/ACOG guidelines)
81221 CFTR known familial variants
81222 CFTR duplication/deletion variants
81223 CFTR full gene sequence
81224 CFTR intron 8 poly-T analysis (eg, male infertility)
The following clinical vignettes issued by the AMA provide examples of common patient scenarios in
which each type of test/code may be performed/billed2:
CPT
Clinical Vignette
81220 A 26-year–old Caucasian female, approximately eight weeks pregnant and otherwise in good
health, visits her obstetrician for a first prenatal visit. After discussing advantages and
limitations of prenatal cystic fibrosis carrier screening with her obstetrician an anticoagulated
peripheral blood sample is sent to the laboratory to be tested for common mutations and
variants associated with cystic fibrosis.
81221 A 1-year–old Caucasian male, whose 6-year–old brother was previously diagnosed with cystic
fibrosis is brought by his mother to the pediatrician for genetic testing. The brother was
previously demonstrated to be a compound heterozygote carrying one copy each of the
common CFTR DeltaF508 mutation as well as a rare variant not included in assays which test for
common variants of CFTR but known to cause cystic fibrosis. An anticoagulated peripheral
blood sample is sent to the laboratory for testing of these known mutations.
1
CPT is a registered trademark of the American Medical Association. ©2012 American Medical Association. All
rights reserved.
2
© American Medical Association 2011. All rights reserved.
81222 A 17-year–old Caucasian female, previously diagnosed with cystic fibrosis based on convincing
clinical criteria and two elevated sweat chloride results, visits her pediatrician with her father to
discuss potential additional genetic testing. Previous tests with a screening assay for common
mutations and variants followed by CFTR full gene sequence analysis revealed only
heterozygosity for the DeltaF508 mutation. An anticoagulated peripheral blood sample is
forwarded to a reference laboratory for deletion/duplication analysis for an uncommon CFTR
mutation.
81223 A 17-year–old Caucasian female with chronic rhino-sinusitis, idiopathic bronchiectasis, and two
sweat chloride measurements in the intermediate range (40–60meq/L) is suspected by her
pediatrician of having an atypical form of cystic fibrosis. A tube of anticoagulated peripheral
blood is submitted to the laboratory for full CFTR gene sequence analysis.
81224 Following recent consultation with his family physician regarding his wife’s difficulty in
conceiving a child, a 34-year–old Caucasian male is referred to a urologist for infertility workup.
Physical further examination and testing reveals bilateral absence of the vas deferens. The
urologist recommends genetic analysis of the CFTR gene to look for common CFTR mutations
and assess the intron 8 poly-T region frequently associated with male infertility. An
anticoagulated peripheral blood sample is forwarded to the laboratory for testing.
Background on CFTR Gene Analysis
Cystic fibrosis (CF) is a multisystem disease affecting the pulmonary and digestive systems, sweat glands,
and, in males, the reproductive tract. It is the most common monogenic disorder in Caucasians of
Northern European heritage, with a prevalence of 1 in 2,500 to 3,300 live births. CF is caused by
mutations in a single large gene on chromosome 7 that encodes the cystic fibrosis transmembrane
conductance regulator (CFTR) protein3. Genetic testing for mutations in the CFTR gene may be ordered
for carrier screening, newborn screening, or confirmatory diagnostic testing in individuals with
suspected CF.
Clarifying and Supporting the Rate Setting Process for CFTR Gene Analysis
Given the reimbursement uncertainty created by the recent coding changes, [Lab Name] would like to
better understand the process and methodologies that [Payer Name] will employ to identify
reimbursement rates for the CFTR gene analysis codes, as well as the associated timelines. If
permissible, we would also be interested in providing you with the information necessary to support
accurate payment determinations for these codes.
As an example, these are the inputs that Medicare Administrative Contractors (MACs) will likely be using
to establish local fee schedule rates for each MoPath code (including CPT 81220–81224) in 2013:



3
Charges for the test and routine discounts to charges;
Resources required to perform the test;
Payment amounts determined by other payers; and
Wenstrom, KD. Cystic fibrosis: prenatal genetic testing. UpToDate. Last updated July 9, 2012.

Charges, payment amounts, and resources required for other tests that may be comparable or
otherwise relevant4.
[Lab Name] believes that inaccurate rate setting for CFTR gene analysis could lead to unsustainable
reimbursement rates, which would ultimately impede patient access to this medically necessary service.
Therefore, we would very much welcome the opportunity to provide [Payer Name] with the inputs
needed to support accurate and sustainable reimbursement for the associated CPT codes (81220–
81224) in 2013 and beyond.
In summary:



CFTR gene analysis is a medically useful screening and diagnostic tool for a genetic disorder with
significant clinical consequences. Effective January 1, 2013, this service will be reported using
CPT codes 81220–81224.
Accurate rate setting for CPT 81220–81224 will be critical to ensuring sustainable
reimbursement and continued patient access to CFTR gene analysis when medically necessary.
[Lab Name] seeks to better understand the rate setting process and methodologies that [Payer
Name] intends to adopt for CPT 81220–81224 (or MoPath codes in general), and would
welcome the opportunity to share the information necessary to support accurate payment
determinations.
We thank you for your time, and look forward to learning more about how [Payer Name] will be setting
payment rates for the MoPath codes, as well as any next steps that we can take to assist your
organization in the rate setting process for CPT 81220–81224 in particular.
Yours sincerely,
[Name]
[Title]
[Phone Number]
[Email Address]
4
Code of Federal Regulations (CFR) Title 42 - Public Health, Part 414 – Payment for Part B Medical and Other
Health Services, Section 414.508 – Payment for a new clinical diagnostic laboratory test.