LETTER OF MEDICAL NECESSITY FOR PALB2 GENETIC TESTING
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 PALB2 genetic testing for hereditary breast and pancreatic cancer 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.
Breast and pancreatic cancer is thought to have a hereditary component in up to 10% of cases; evaluating
personal and family histories is a major part of this assessment. Significant aspects of my patient’s personal
and/or family medical history that suggest an inherited predisposition to breast and pancreatic cancer are
below:



This history indicates a reasonable probability of detecting a PALB2 mutation in my patient and
warrants germline genetic testing. Genetic testing will help clarify my patient’s risk to develop cancer(s) and
help guide medical management, screening, and surveillance.
PALB2 mutations are associated with at least a 2- to 4-fold increased lifetime risk for female breast cancer. In
the context of a strong family history, mutations in PALB2 are associated with up to a 58% lifetime risk of
female breast cancer [1]. Without a family history, the lifetime risk for female breast cancer was estimated to
be 33% [1]. These risks are substantially higher than the average lifetime risk of 8-12% for women to
develop breast cancer.
PALB2 has also been reported as the second most significant pancreatic cancer susceptibility gene [2]; PALB2
mutations are associated with an increased lifetime risk to develop pancreatic cancer.
Confirmation that my patient carriers a PALB2 mutation through molecular genetic testing will
clarify my patient’s risk for breast and pancreatic cancer, and will directly impact my patient’s care
and management. If a mutation is identified, we would adjust medical care to reduce my patient’s risk of
developing an advanced stage cancer and subsequently dying of the disease. An aggressive approach
following established screening guidelines is indicated in individuals who carry a PALB2 mutation. Screening
modalities for breast cancer include breast self-examinations, clinical breast examinations, mammogram,
ultrasound, and MRI. For those with significantly increased risk of breast cancer, prophylactic mastectomies
are also considered. For pancreatic cancer, screening includes endoscopic ultrasound and/or MRI/MRCP.
Full gene sequencing and deletion/duplication analysis of PALB2 are available individually or as part of
multi-gene tests. Due to the known risks associated with PALB2 mutations and the available interventions,
genetic testing for PALB2 is warranted. As such, I am ordering this testing as medically necessary care
and affirm that my patient has provided informed consent for genetic testing.
A positive test result would confirm a genetic diagnosis in my patient, and would ensure my patient is being
managed appropriately. I am specifying Ambry Genetics Corporation because this laboratory has highly
sensitive and cost-effective testing for hereditary breast and pancreatic cancer, along with a large database
of tested patients to ensure the most validated, accurate, and informative test interpretation.
I recommend that you support this request for coverage of diagnostic genetic testing for hereditary breast
and pancreatic cancer 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:
81406x1 (gene sequence analysis); 81406x1, 81479x1 (gene sequence analysis and
deletion/duplication analysis); 81403x1 (specific site analysis)
Laboratory:
Ambry Genetics Corporation (TIN 33-0892453 / NPI 1861568784), a CAP-accredited and
CLIA-certified laboratory located at 15 Argonaut, Aliso Viejo, CA 92656
References:
1.
2.
Antoniou, A.C., et al., Breast-cancer risk in families with mutations in PALB2. N Engl J Med, 2014.
371(6): p. 497-506.
Jones, S., et al., Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science,
2009. 324(5924): p. 217.