LETTER OF MEDICAL NECESSITY FOR CYSTIC FIBROSIS DIAGNOSTIC GENETIC TESTING (CF
AMPLIFIED)
Date:
Date of service/claim
To:
Utilization Review Department
Insurance Company Name, Address, City, State
Re:
Patient Name, DOB, ID #
ICD-9 Codes: (list codes)
This letter is in regards to my patient and your subscriber, First, Last Name to request full coverage
of medically-indicated diagnostic cystic fibrosis genetic testing to be performed by Ambry Genetics
Corporation (TIN 33-0892453 / NPI 1861568784), a CAP-approved and CLIA-certified laboratory
located at 15 Argonaut, Aliso Viejo, CA 92656.
Cystic fibrosis (CF) is an inherited disease that affects the respiratory and digestive systems. It
occurs in about 1 in 3,500 births; there are about 70,000 children and adults with cystic fibrosis,
worldwide. Symptoms can include chronic cough, recurrent lung infections that can lead to
diminished pulmonary function, pancreatic insufficiency, elevated sweat chloride levels, poor
growth, pancreatitis, and male infertility.
CF is due to improper functioning of the cystic fibrosis transmembrane conductance regulator
(CFTR) gene. A person develops cystic fibrosis when they inherit two non-working copies of CFTR,
one from each of their parents. Parents of a child with CF are usually symptom-free carriers of the
condition because they still have one copy of CFTR that works.
My patient’s personal and family history, as relevant to CF, is outlined below as applicable:



This genetic test (CF AMPLIFIED) analyzes the CFTR gene in its entirety, and is the most thorough
and cost-effective way to analyze this complex gene. As my patient is of [ethnicity] background
and has symptoms of CF, there is a reasonable probability of detecting two causative
mutations in my patient. Access to genetic testing to undertake the diagnosis of CF is a
minimum requirement, as per the European Cystic Fibrosis Society Standards of Care.1
Confirmation that my patient has CF through molecular genetic testing will directly impact
my patient’s care and management. A positive genetic test result can provide the following
benefits to my patient:
 Aid in diagnosis for patients with an atypical presentation of disease
 Tailor medical treatment based on specific mutations, such as these examples:
o Specific drug treatment for those that have the G551D CFTR mutation (found in
~4% of patients)
o Specific drug treatment for those with CFTR nonsense mutations. A comprehensive
CFTR analysis (like CF AMPLIFIED) is the most thorough way to know if individuals
have a premature stop codon (a nonsense mutation) as one of their mutations.



Allow immediate management and treatment to help anticipate and control common
clinical findings associated with cystic fibrosis
Assist in/tailor patient long-term management and monitor suspected disease progression,
based on mutations identified
Help clarify/inform reproductive decision making for family members
This genetic testing (CF AMPLIFIED) includes full gene sequencing and deletion/duplication
analysis of the CFTR gene. It detects ~99% of disease-causing CFTR mutations, as well as gross
deletions and duplications. Due to the medical risks associated with these mutations and available
interventions, this genetic testing is medically warranted. As such, I am ordering this testing as
medically necessary and affirm that my patient has provided informed consent for genetic
testing.
A positive test result would confirm a CF diagnosis in my patient, and would ensure he/she is being
managed appropriately. I am specifying Ambry Genetics Corporation because this laboratory was
the first to offer CFTR sequencing clinically, and through the years has built a robust database of
tested patients to ensure highly validated, accurate, and informative test interpretation.
I recommend that you support this request for coverage of CF diagnostic genetic testing in my
patient. Depending on the exact test ordered, genetic testing can take up to several weeks to
complete and the laboratory will not bill until testing is concluded. Therefore, we are requesting
that the authorization be valid for 4 months.
Thank you for your time and please don’t hesitate to contact me with any questions.
Sincerely,
Ordering Clinician Name (Signature Provided on Test Requisition Form)
(MD/DO, Clinical Nurse Specialist, Nurse-Midwives, Nurse Practitioner, Physician Assistant, Genetic
Counselor*)
*Authorized clinician requirements vary by state
Test Details
CPT codes:
81223x1, 81224x1, 81222x1
Laboratory:
Ambry Genetics Corporation (TIN 33-0892453 / NPI 1861568784), a CAPaccredited and CLIA-certified laboratory located at 15 Argonaut, Aliso Viejo, CA
92656
References:
1. Smyth AR, et al. European Cystic Fibrosis Society Standards of Care: Best Practice
guidelines. J Cyst Fibros. 2014 May; 13 Suppl 1:S23-42.