Download March 1, 2005 - Ambry Genetics

Insurance Company Name
Address
City, State
Date of claim
Re: Ambry Genetics Corporation, Letter of Medical Necessity for Whole Exome Sequencing (WES)
Patient First, Last Name
DOB
ID Number
Dear Medical Director,
This letter is in regards to my patient and your subscriber, First, Last Name to request full
coverage for exome sequencing 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.
In 2012, the American College of Medical Genetics (ACMG) published a statement regarding the
clinical application of genomic sequencing, stating; “The ACMG recognizes that genomic sequencing
approaches can be of great value in the clinical evaluation of individuals with suspected germline
genetic disorders…results will provide an explanation for a patient’s phenotype by identifying a
mutation in a gene known to be associated with the patient’s clinical condition or in a gene that is highly likely
to be causative given current knowledge” (Genet Med. 2012 14, 759-761). The ACMG recommends exome
sequencing for the following indications:
 The phenotype or family history data strongly implicate a genetic etiology, but the phenotype
does not correspond with a specific disorder for which a genetic test targeting a specific gene is
available on a clinical basis
 A patient presents with a defined genetic disorder that demonstrates a high degree of genetic
heterogeneity, making WES or whole genome sequencing (WGS) analysis of multiple genes
simultaneously a more practical approach
 A patient presents with a likely genetic disorder but specific genetic tests available for that
phenotype have failed to provide a diagnosis
 A fetus with a likely genetic disorder in which specific genetic tests, including targeted
sequencing tests, available for that phenotype have failed to arrive at a diagnosis
As such, First, Last Name has a suspected diagnosis of /history of Disease Name due to the
following symptoms and clinical findings: seizure, myopathy, migraine, ptosis, neuropathy, autism
spectrum disorder, mental retardation, mitochondrial disorder, lactic acidosis and cardiomyopathy.
Patient Name has undergone a series of tests with uninformative results, listed here:
 SNP-array, comparative genomic hybridization, karyotype and fragile X
 _____________ gene sequencing for suspected _________________________________ syndrome
 _____________ gene panel sequencing for suspected ____________________________ syndrome
 Biochemical/ imaging studies for suspected ___________________________________ syndrome
 Consultations specialists including geneticists, oncologists, ophthalmologists, or
__________________________________all with the goal of uncovering the underlying diagnosis
Due to the heterogeneous nature of this patient’s symptoms, WES using next generation
sequencing technology is the most effective method to simultaneously analyze the majority of the
genes in the genome. Genetic testing will be performed through Ambry Genetics Corporation given
its long-standing experience with next-generation sequencing, consistent variant analysis, detailed
results reporting and continuous support from highly trained medical directors and genetic
counselors. Ambry's WES is a robust test that consists of sequencing the functionally relevant region
of 20,000 genes in the human body. It is the most cost-effective and comprehensive method to
rapidly detect the underlying cause in patients afflicted with genetic disease, as 85% of genetic
mutations with large clinical consequences occur within the exome.
We have seriously considered First, Last Name underlying diagnosis, and while we think that it
is highly likely that he/she has an inherited syndrome, at the present time we cannot recognize a
specific entity. The overall clinical picture and the rarity of this individual’s symptoms raise concern
that a mutation in a gene may be missed by individual or panel gene sequencing.
First, Last Name previous negative test results increase the likelihood for a mutation in a gene
that is not included on available single gene or multi-gene panels. Likewise, in the absense of
informative results we will not be able to provide the family with a diagnosis or appropriate
recommendations for management. The WES is needed to determine the nature of First, Last Name
condition and determine appropriate medical interventions and therapies in a timely fashion. First,
Last Name, his/her family and his/her medical providers have significant concerns regarding his/her
as yet undiagnosed condition. A diagnosis can aid in determining the best course of treatment,
identification of necessary medical referrals to specialists, potential presymptomatic screening for
associated complications, eliminating unnecessary testing, appropriate educational planning and
patient advocacy, anticipatory guidance and support group referrals for families, family
reproductive planning, carrier testing and prenatal diagnosis.
SUMMARY OF DIAGNOSIS - ICD-9 CODES (INPUT ALL THAT APPLY) – (USE V CODES FOR SECONDARY DX)
277.9
Unspecified disorder of
319
Unspecified intellectual disability
742.9
Uns anomaly brain or nervous system
metabolism
330.8 Other cerebral degener childhood
756.0
Anomalies of skull and face bones
334.9 Unspecified spinocerebellar disease
759.7
Multple congenital anomalies
345.4 Focal epilepsy with complex seizures/
781.3
Hypotonia, hypotonicity
299.00 Autism, current infantile
or childhood
315.39 Other developmental speech
disorder
315.9 Unsp delay in development
partial epilepsy with complex seizures
783.41 Failure to thrive
345.6 Infantile spasms
783.42 Delayed milestones
345.9 Epilepsy unspecified
Others ____________________________
I recommend that you support this request for coverage of WES for my patient. Genetic testing
can take up to 8 months to complete and the laboratory will not bill until testing is concluded.
Therefore, we are requesting that the authorization be valid for 12 months.
Thank you for your time and please don’t hesitate to contact me with any questions.
Sincerely,
Ordering Clinician Signature ________________________________ Date ______________
(MD/DO, Clinical Nurse Specialist, Nurse-Midwives, Nurse Practitioner, Physician Assistant, Genetic Counselor*)
*Authorized clinician requirements vary by state