ATTN:<Medical Director/ Physician Name>, MD

<Date>

Re: <Patient Full Name>DOB: <MM/DD/YYYY>

Member ID: <Enter Member ID>Group ID: <Enter Group ID>

Dear <Medical Director/Physician Name>:

I am writing on behalf <Patient Name>, my patient and your subscriber, to request coverage for the Alagille Syndrome NGS Panel offered through Fulgent Diagnostics, a CLIA certified and CAP accredited laboratory located in Temple City, CA. This letter documents the medical necessity of utilizing this test to confirm the diagnosis of Alagille syndrome and includes pertinent information relevant to this patient’s medical history and family history.

Medical History

Patient is a <age> -year-old <gender > with a suspected diagnosis of Alagille syndrome based on the following symptoms:

____Symptom 1 with ICD code

____Symptom 2 with ICD code

____Symptom 3 with ICD code

Family History

The family history is as follows:

Maternal:

Paternal:

Rationale for Testing

Alagille syndrome is an autosomal dominant genetic disorder. Features can be observed at birth or may develop later in childhood (Spinner et al., 2013). There is a considerable amount of variable expressivity amongst patients with this condition but some of the key findings include chronic cholestasis, bile duct paucity, cardiac anomalies, and distinctive facial features (Emerick et al., 1999). Other common abnormalities include renal disease, pancreatic insufficiency, growth retardation, vertebral anomalies, ocular abnormalities, and developmental/intellectual delays (Subramaniam et al., 2011).

Alagille syndrome exhibits genetic heterogeneity and has been associated with mutations in 2 genes: JAG1 and NOTCH2 (Turnpenny & Ellard, 2011). Due to Alagille syndrome’s heterogeneous nature, it is more time and cost effective to perform large scale sequencing of multiple genes, through Next Generation Sequencing (NGS), rather than traditional Sanger sequencing for specific mutations (ACMG Board of Directors, 2013). Finding a molecular cause can confirm a clinical diagnosis and help guide management. According to the Journal of Pediatric Gastroenterology and Nutrition (2012), patients should receive a complete workup by a gastroenterologist, cardiologist, nephrologist, and have evaluations for growth, nutrition, and vasculopathies.

This test is appropriate based on the patient’s <phenotype and family history>, which is suggestive of Alagille syndrome. The results from this test will be used to confirm the suspected diagnosis of Alagille syndrome and will help direct treatment for the patient. A confirmatory diagnosis of Alagille syndrome can ensure that the patient receives the most appropriate and beneficial medical care. The results of this test could also be helpful to avoid other potentially unnecessary, time-consuming, and costly procedures. The results of this test may also be helpful in the avoidance of prescribing medications that might be ineffective or contraindicated for this condition. The information this test provides will also be beneficial when making arrangements for this patient in the future

Besides impacting the medical management of this patient, this test will provide useful information for other at-risk family members. Once the family mutation is identified, family members can pursue targeted testing for the specific variant. A positive result in a family member will allow appropriate management and informed decisions regarding family planning.

In summary, I am requesting that <Patient Name> be approved for the Alagille Syndrome NGS Panel offered by Fulgent Diagnostics. The CPT codes are as follow:

Seq / 81407x1, 81479x1
Del/Dup / 81407x1, 81479x1
Seq & Del/Dup / 81406x1, 81407x1, 81479x2

Laboratory:
Fulgent Diagnostics
4978 Santa Anita Ave
Temple City, CA, 91780

I thank you for your review and I hope you will support my recommendation of Fulgent Diagnostics’Alagille Syndrome NGS Panel for <patient’s full name>. Since coordinating and completing complex testing of this nature can take up to several months, we request that the authorization is made valid for at least 6 months. Please feel free to contact me at <Physician Phone> if you have additional questions or would like to further discuss this request.

Sincerely,

<Physician Name>, MD

NPI #: <Physician NPI#>

Contact information:

< Address>

Contact Phone No.: <phone number>

References

1. ACMG Board of Directors. (2012). Points to consider in the clinical application of genomic sequencing. Genet Med. 14:759-761.

2. Emerick, K. M., Rand, E. B., Goldmuntz, E., Krantz, I. D., Spinner, N. B., & Piccoli, D. A. (1999). Features of alagille syndrome in 92 patients: Frequency and relation to prognosis. Hepatology, 29, 822-829.

3. Kamath, B. M., Loomes, K. M., & Piccoli, D. A. (2010). Medical management of alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition, 50(60), 580-586.

4. Spinner, N. B., Leonard, L. D., Krant, I. D. (2013). Alagille syndrome. GeneReviews, 1-32.

5. Subramaniam, P., Knisely, A., Portmann, B., Qureshi, S. A., Aclimandos, W. A., Karani, J. B., & Baker, A. J. (2011). Diagnosis of alagille syndrome-25 years of experience at king’s college hospital. Journal of Pediatric Gastroenterology and Nutrition, 52, 84-89.

6. Turnpenny, P. D., & Ellard, S. (2011). Alagille syndrome: Pathogenesis, diagnosis and management. European Journal of Human Genetics, 20, 251-257.

ATTN:&lt;Medical Director/ Physician Name&gt;, MD

ATTN:<Medical Director/ Physician Name>, MD