Medical Necessity Justification



Patient/Member InformationPatient Name:DOB: Payor:Plan:Subscriber Name:Subscriber Number: Provider/Contact InformationOrdering Provider: Contact Person:Phone:Fax: Genetic Test InformationName of test: Malignant Hyperthermia Susceptibility NGS Panel (3 genes)Test Code: 1383CPT code(s): 81479, 81408, 81479ICD10 code(s): Z84.89List price: Do you have a preferred clinical laboratory for genetic testing? __ NO (or not applicable) _X YES, (provide preferred lab name): Prevention GeneticsPlease state the reason why testing should/must be performed at this laboratory: The Prevention Genetics MHS panel contains more genes at a comparable price.Clinical Reasoning for Genetic Test (Attach the clinic note)*** is a *** year old *** with a family history of suspected Malignant Hyperthermia. ***-What laboratory and/or clinical testing have been performed to date (genetic and other testing)? -Why is genetic testing necessary at this time? Malignant hyperthermia (MH) is a rare, life-threatening, autosomal-dominant inherited disorder that may lead to metabolic crisis of skeletal muscle in susceptible individuals following exposure to triggering agents, such as common anesthetics or depolarizing muscle relaxants. In everyday life, most MH-susceptible (MHS) individuals do not suffer from muscle symptoms. However, in almost all cases, the first manifestations of MH occur in the operating room. Death can result unless the patient is promptly treated. Alternative anesthetics are available for known MH Susceptible individuals.Clinical manifestations to a triggering agent are variable, but include: hypercapnia tachycardia, hyperthermia, acidosis, hyperCKemia, rhabdomyolysis, cardiac arrhythmia and even cardiac arrest. Because of the variable clinical presentation of MH, ranging from mild or moderate symptoms to MH crises, patient survival depends on early recognition of symptoms and prompt action on the part of the attending anesthesiologist. Anesthesiologists must be aware of MHS individuals so as to avoid exposing them to triggering agents.Pathogenic variants in three genes (RYR1, CACNA1S and STAC3) are known to cause MH. Molecular genetic testing is often used as a first line diagnostic tool for MH susceptibility and is an alternative to the invasive and painful muscle biopsy contracture test. Molecular testing is indicated after an incident suspicious for MH in patients with nonspecific myopathy or persistently elevated serum creatine kinase and in families with a history of MH. Molecular testing is indicated when a family member has an unexplained death with signs of MH during or immediately after anesthesia-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: Detection of a pathogenic variant will stop the need for further diagnostic testingInform on prognosis: NAChange treatment plan (e.g. medical or surgical decision-making or treatment): It is crucial that an individual with confirmed or suspected susceptibility to MH avoid any contact with MH triggering substances, which include all volatile anesthetics and succinylcholine. Apart from that, no specific monitoring or treatment is required. Management recommendations also exist for agents to avoid and pregnant womenChange surveillance (e.g. annual echocardiograms, either begin or stop): Mounting evidence suggests an individual with MHS may be at risk for additional health complications that can go along with the condition (e.g., heat intolerance, common core disease).Provide information for family members: MH is inherited in an autosomal dominant pattern. This means an affected individual likely inherited the pathogenic RYR1 variant from an affected parent. Each of the affected individual’s siblings and children have a 50% chance of inheriting the pathogenic variant. If a pathogenic variant is detected, targeted testing of at risk family members is warranted.-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. Approximately 70-80% of MHS is caused by pathogenic mutations of RYR1. Causative mutations in the other two genes are less common. This means there are likely other, as of yet unidentified, genes which cause MHS. -If this is a request is for a gene panel, then please describe why a single gene test is not as useful. Three genes have been associated with causing MH. A gene panel is more cost effective.-Please list specific guidelines and/or references in support of your request:Schneiderbanger D, Johannsen S, Roewer N, Schuster F. Management of malignant hyperthermia: diagnosis and treatment. Theura and Clin Risk Manage 2014:10: 355-362.European Malignant Hyperthermia Group: Causative RyR1 mutations.2013. Available from: March 12,2014.Rosenberg H. Mining for mutations in malignant hyperthermia. Anesth Analg. 2011;113:975–976.Broman M, Heinecke K, Islander G, et al. Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis. Anesth Analg. 2011;113:1120–1128.Rosenberg H, Sambuughin N, Riazi S, et al. Malignant Hyperthermia Susceptibility. 2003 Dec 19 [Updated 2013 Jan 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews? [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. ................
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