Download SAMPLE LETTER OF MEDICAL NECESSITY FOR

SAMPLE LETTER OF MEDICAL NECESSITY
FOR
COMPREHENSIVE EPILEPSY GENETIC TESTING (EPINEXT)
Date:
Date of service/claim
To:
Utilization Review Department
Insurance Company Name
Address, City, State, Zip
Re:
Patient Name, DOB, ID #
ICD-10 Codes: (list codes)
Dear Medical Director:
I am writing this letter on behalf of my patient and your subscriber, [First Last Name], to request
coverage of medically-indicated genetic testing for epilepsy (EpiNext) offered by Ambry Genetics
Corporation.
Most epilepsy syndromes have a genetic component, including emerging evidence of a greater
genetic contribution to epilepsy than previously thought.1 Clinical and genetic overlap between
epilepsy syndromes is considerable, making a precise diagnosis difficult. Epilepsy syndromes with
a known genetic etiology include: Benign Familial Neonatal Seizures (BFNS), Dravet syndrome,
Genetic Epilepsy with Febrile Seizures Plus (GEFS+), childhood absence epilepsy with febrile
seizures, familial hemiplegic migraine, early infantile epileptic encephalopathy, infantile spasms,
West syndrome, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), autosomal
dominant partial epilepsy with auditory features (ADPEAF), familial partial epilepsy with variable
foci (FPEVF), progressive myoclonus epilepsy, myoclonic epilepsy myopathy sensory ataxia
(MEMSA), pyridoxine-dependent epilepsy, tuberous sclerosis complex, and neuronal ceroid
lipofuscinosis (Batten disease).
Recent discoveries regarding the genetics of epilepsy have highlighted two important patterns: 1)
One gene can be associated with multiple epilepsy syndromes, and 2) One epilepsy syndrome can
be associated with multiple genes.1 Taken together, these findings support the use of a broad multigene panel for genetic testing, especially in patients with an unclear history or atypical
presentation. Genetic testing can assist with establishing the correct diagnosis. Additionally, genetic
testing is increasingly relevant to the clinical management of epilepsy.
For this patient, I have determined that this genetic test is medically necessary based on [his/her]
clinical symptoms, EEG findings, and/or clinical history. My patient is suspected to have a genetic
form of epilepsy. [His/Her] clinical history is suggestive of epilepsy, outlined below as
applicable (Alternative: My patient presented to clinic with the following history consistent
with epilepsy):


This genetic test (EpiNext) analyzes 100 genes associated with epilepsy: ALDH7A1, ARHGEF9, ARX,
ATP1A2, ATP13A2, CACNA1A, CASK, CDKL5,CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6,
CLN8, CNTNAP2, CSTB, CTSD, DEPDC5, DNAJC5, DNM1, DYNC1H1, EPM2A, FOLR1, FOXG1, GABRA1,
GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, KCNC1,
KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19,
PIGA, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5,
SLC25A22, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, ST3GAL3, STXBP1, SYN1, SYNGAP1, SZT2,
TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, ZEB2, PLCB1, CRH, STX1B, CTSF, IQSEC2, GRN, EEF1A2,
KCNA2, SIK1, SLC6A1, TBL1XR1, DCX, DYRK1A, FLNA, KIAA2022, PURA, SMC1A, and WDR45. This
multi-gene test is an efficient and cost-effective way to analyze numerous genes implicated in
epilepsy, and has significant potential to identify a causative gene mutation in my patient. As my
patient has unexplained epilepsy, there is a reasonable probability of detecting a mutation
with this test.
This genetic testing will help clarify my patient’s diagnosis and more importantly, guide my
recommendation for further medical care. This genetic test will impact medical
management, screening, and prevention of potential complications of this disease.
Examples of this include2,3:
 Treatment with sodium channel blocking anticonvulsants (such as carbamazepine and
phenytoin) is contraindicated in patients with mutations in channelopathy genes (like
SCN1A), due to associations with seizure aggravation.
 Certain mutations in progressive myoclonus epilepsy genes may lead to targeted therapy
with a premature stop codon read-through drug (such as gentamicin) and/or avoidance of
drugs that can exacerbate myoclonus and dementia (such as sodium channel blocking
anticonvulsants and GABAergic drugs).
 Patients with the CHRNA4 mutation p.Ser284Leu are more responsive to zonisamide than
carbamazepine for treatment.
Specifically for this patient, the results of the genetic test are necessary to consider in the following
areas [check all that apply]:

Genetic testing will lead to changes in my medical management strategies; AND/OR

Genetic testing will lead to changes in diagnostic procedures such that more potentially
invasive alternative procedures could be avoided, reducing unnecessary tests and cost;
AND/OR

Genetic testing will lead to informed decisions for other family members with similar
conditions, or that may be at risk for similar conditions
EpiNext includes full gene sequencing and deletion/duplication analysis of 98 genes (listed earlier).
Due to the medical risks associated with these mutations and the available interventions, this
genetic test is medically warranted. As such, I am ordering this test as medically necessary and
affirm that my patient (Alternative: authorized representative, if a minor) has provided
informed consent for genetic testing.
A positive test result would confirm a genetic diagnosis 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 unexplained epilepsy, along with a large database of
tested patients to ensure highly validated, accurate, and informative test interpretation.
Please review this information and provide support for this request for coverage of diagnostic
genetic testing for my patient. Coordinating and completing complex testing of this nature can take
up to several months; we are requesting that the authorization be valid for at least 6 months.
Thank you for your time and further consideration. If you have any questions, please do not
hesitate to contact me at the numbers indicated below.
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
[Clinician Address]
[Clinician Phone Number]
Test Details
CPT codes:
81302, 81304, 81403x2, 81404x7, 81405x10, 81406x13, 81407x3,
81479x71
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. Thomas RH and Berkovic SF. The hidden genetics of epilepsy – a clinically important new
paradigm. Nat Rev Neurol. 2014 May;10(5):283-92.
2. Miller IO and de Menezes MAS. SCN1A-Related Seizure Disorders. 2007 Nov 29 [Updated
2014 May 15]. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA):
University of Washington, Seattle; 1993-2014.
3. Kurahashi H and Hirose S. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. 2002 May
16. [Updated 2014 Feb 19]. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle
(WA): University of Washington, Seattle; 1993-2014.