Medical Necessity Justification



Patient/Member InformationPatient Name: DOB: Subscriber Name:Plan:Subscriber Number: Provider/Contact InformationOrdering Provider: Contact Person:Phone:Fax:Genetic Test InformationName of test: Friedreich Ataxia Repeat Expansion AnalysisTest Code: 6031CPT code(s): 81401x1ICD10 code(s): R26.9 (gait abnormality), M62.81 (generalized muscle weakness), R27.0 (ataxia), List price:Do you have a preferred clinical laboratory for genetic testing? __ NO (or not applicable) _X YES, (provide preferred lab name): Baylor GeneticsPlease state the reason why testing should/must be performed at this laboratory: Baylor Genetics is the only lab that performs this analysis.Clinical Reasoning for Genetic Test (Attach the clinic note)***is an *** yo *** 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?Friedreich Ataxia (FRDA) is a genetic condition that affects the nervous system and causes movement problems. The characteristic feature is slowly progressive impairment of muscle coordination (ataxia) which typically begins between ages 10 and 15, but before age 25. Typically, the first noticeable features FRDA are poor coordination and balance problems. The slow progression typically results in the use of a wheelchair about 10 years after signs and symptoms appear.Other features of FDRA are the gradual loss of strength and sensation in the arms and legs; muscle stiffness (spasticity); and impaired speech (dysarthria) and ability to swallow (dysphagia), urinary urgency, scoliosis, hearing loss, vision loss and sleep apnea. Approximately 66% of individuals with FRDA develop hypertrophic cardiomyopathy, a condition where the heart muscle is enlarged and weakened and which can be life-threatening. Some affected individuals develop diabetes.The rate of progression of FRDA is variable. The average time from symptom onset to wheelchair dependence is typically ten years. People with FRDA have a decreased life span; the average age at death was 37 yearsMutations in a gene called FXN cause FRDA. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This GAA trinucleotide repeat is present multiple times in a row. An unaffected person has 5 to 33 GAA trinucleotide repeat within the FXN gene. In people with FRDA, the GAA repeat region has expanded to more than 66 times. The length of the GAA trinucleotide repeat appears to be related to the age of onset, severity and rate of progression. People with GAA segments repeated fewer than 300 times tend to have a later appearance of symptoms (after age 25) than those with larger GAA trinucleotide repeats. FRDA is inherited in an autosomal recessive manner. This means a person must inherit two GAA expanded FXN genes in order to have FRDA. Therefore, both parents must be carriers of an expanded FXN gene in order to have a child with FRDA. Carriers are unaffected. When both parents are carriers, there is a 25% chance (1 in 4) for each child to have FRDA, a 50% chance (1 in 2) for each child to be a carrier and a 25% chance for each child to be an unaffected noncarrier. ***’s family history is consistent with an autosomal recessive inheritance pattern.-How will the results of the genetic test, whether negative or positive, impact the future management of the member being tested? (check and explain all that apply):Stop the need for further diagnostic testing: Targeted testing for the abnormally expanded GAA repeat in FXN will confirm the diagnosis of FRDA. FXN the only known gene to be associated with FRDA Inform on prognosis: The age of onset, presence of leg muscle weakness/wasting, duration until wheelchair use, and prevalence of cardiomyopathy, pes cavus, and scoliosis have all shown statistically significant inverse correlations with the size of the expanded GAA repeat The size of the shorter of the two expanded pathogenic GAA repeat alleles shows better correlation than the larger repeat allele and accounts for approximately 50% of the variation in age of onset Significant correlation is seen between the size of the GAA expansion and various diastolic parameters as well as the thickness of the interventricular septum and left ventricular wallChange treatment plan: There are some treatments that can be valuable in some patients including supplementation with coenzyme Q, which is an expensive therapy that is not covered by insurance and, therefore, it would be very important for us to know whether or not *** is indeed affected before recommending to the family to treat *** lifelong. Additionally, medication such as iron must be avoided. Finally, knowledge of this disorder may allow *** to be involved in research studies that might provide innovative therapies for *** condition and, thereby, slow the progression. Change surveillance (e.g. annual echocardiograms, either begin or stop) It is critical for us to know what to expect in the future and what organ systems to monitor to prevent him from having a catastrophic deterioration. This would allow us to intervene with counseling to help *** be more independent and more understanding of the nature of this condition. The following are recommended for individuals with a diagnosis of FRDA: at least annual assessment of overall status; examination for complications including spasticity, scoliosis, and foot deformity; annual ECG, echocardiogram, and fasting blood sugar to monitor for diabetes mellitus; hearing assessment every two to three years; a low threshold for sleep study to investigate for obstructive sleep apnea.Provide information for family members: Test results will provide valuable information to family members regarding recurrence risk and prognosis. ***’s parents have four additional, younger children. When a known familial mutation is identified, targeted testing for other symptomatic individuals is more straight forward and less expensive.-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. Likely.-If this is a request is for a gene panel, then please describe why a single gene test is not as useful.NA-Please list specific guidelines and/or references in support of your request:Gene Reviews ................
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