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When completed, this form will contain Protected Health Information. Follow your institutional HIPAA guidelines when using this form. Patient/Member Information Patient Name: Subscriber Name: Provider/Contact Information Ordering Provider: Contact Person: DOB: DOB Subscriber Number: Phone: Fax: Genetic Test Information Name of test: Mitochondrial disorders panel including sequencing and del/dup analysis of nuclear and mitochondrial genes Test Code: CPT code(s): ICD10 code(s): List price: Do you have a preferred clinical laboratory for genetic testing? _X NO (or not applicable) __ YES, (provide preferred lab name): Please state the reason why testing should/must be performed at this laboratory: Clinical Reasoning for Genetic Test (Attach the clinic note) *** is a ***year old *** with a history of *** -What laboratory and/or clinical testing have been performed to date (genetic and other testing)? -Why is genetic testing necessary at this time? Mitochondrial disorders are a clinically heterogeneous group of genetic disorders characterized by multiple organ system involvement affecting systems that require high amounts of energy (brain, skeletal muscle, heart, kidney, endocrine system, etc). The signs and symptoms of mitochondrial disorders vary greatly from patient to patient, making an accurate clinical diagnosis very difficult. Additionally, the prognosis varies considerably, from treatable to early death among these variable genotypes. -How will the results of the genetic test, whether negative or positive, impact the future management of the member being tested? (explain all that apply): Stop the need for further diagnostic testing: A clinically significant result consistent with the patient’s phenotype would stop the need for further genetic testing or for a costly muscle biopsy. When completed, this form will contain Protected Health Information. Follow your institutional HIPAA guidelines when using this form. Inform on prognosis: A clinically significant result will allow us to analyze precedent and provide information to the family and potentially other individuals with the genetic change regarding natural history, prognosis and involvement of other organ systems (if available). Change treatment plan (e.g. medical or surgical decision-making or treatment): Various treatments for mitochondrial disorders have been described depending upon the specific mitochondrial disorder identified 2. Change surveillance (e.g. annual echocardiograms, either begin or stop): Depending on the mitochondrial disorder diagnosed, the patient may be at an increased risk for other complications requiring increased surveillance including cardiac complications, seizures, brain abnormalities, etc. Provide information for family members: Identification of a clinically significant finding allows for our patient to better understand the risk to their future children. A positive result would also allow for expanded reproductive options including preimplantation genetic diagnosis. Finally, at-risk family members could be offered targeted and informative testing. -What is the probability that this test will be positive? If this is not known, then please indicate which clinical features increase the probability that this test will provide a diagnosis. Our patient’s clinical features are highly suspicious of a mitochondrial disorder including ***. The likelihood this test will be positive is unknown. -If this is a request is for a gene panel, then please describe why a single gene test is not as useful. The signs and symptoms of mitochondrial disorders vary greatly from patient to patient, making an accurate clinical diagnosis very difficult. Analyzing mitochondrial disorders on a gene-by-gene basis is not practical and also not cost effective. -Please list specific guidelines and/or references in support of your request: 1. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview 2. Scarpelli M, Todeschini A, Rinaldi F, Rota S, Padovani A, Filosto M. Strategies for treating mitochondrial disorders: an update (2014). Mol Genet Metab. 113(4):253-60. 3. Rotig, A. Genetic basis of mitochondrial respiratory chain disorders (2010). Diabetes Metab 36(2):97107.