LETTER OF MEDICAL NECESSITYFORRAPID EPILEPSY GENETIC TESTING

(EpiRapid)

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 rapid genetic testing for epilepsy (EpiRapid)offered by Ambry Genetics Corporation.

Most epilepsysyndromes have a genetic component, including emerging evidence of a greater genetic contribution than previously thought.1Epilepsy 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, early infantile epileptic encephalopathy, infantile spasms, and West syndrome.

Some epilepsy syndromes have effective treatments available. Recent advancements in clinical research have shown that particular genetic causes of epilepsy may be more or less responsive to certain types of therapy.Early diagnosis may be the key to more customized and appropriate management.

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 ofepilepsy, outlined below as applicable(Alternative: My patient presented to clinic with the following history consistent with epilepsy):

This genetic test (EpiRapid) analyzes 16 genes associated with epilepsy that could have immediate implications for treatment in a rapid timeframe: ALDH7A1, FOLR1, KCNQ2, KCNQ3, KCNT1, MECP2, PCDH19, PNPO, POLG, PRRT2, SCN1A, SCN8A, SLC2A1, STXBP1, TSC1, and TSC2.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 hasunexplained 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 can impact immediate medical management, screening, and prevention of potential complications of this disease. Examples of this include2-4:

  • 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.
  • Use of the ketogenic diet is indicated for patients with mutations in SLC2A1.
  • Treatment with pyridoxine (vitamin B6) and/or folinic acid is indicated for patients with pyridoxine-responsive epilepsy, including those with mutations in ALDH7A1, FOLR1, and/or PNPO.

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 immediate 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

EpiRapidincludes full gene sequencing of 16 genes (listed earlier) and MLPA deletion/duplication analysis of MECP2. 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 least6 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, 81405x2, 81406x2, 81407

Laboratory: Ambry Genetics Corporation (TIN 33-0892453 / NPI 1861568784), a CAP-accredited and CLIA-certified laboratory located at 7 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. Riikonen R, et al. Long-term outcome in pyridoxine-responsive infantile epilepsy. Eur J Paediatr Neurol. 2015;19(6):647-651.
  4. Ramm-Pettersen A, et al. Good outcome in patient with early dietary treatment of GLUT-1 deficiency syndrome: results form a retrospective Norwegian study. Dev Med Child Neurol. 2013;55(5):440-447.