Medical Necessity Justification



Patient/Member InformationPatient Name: DOB:Payor: Plan:Subscriber Name:DOBSubscriber Number:Provider/Contact InformationOrdering Provider:Contact Person:Phone:Fax:Genetic Test InformationName of test: Syndromic Macrocephaly/Overgrowth Syndromes Panel (Sequence Analysis and Exon-Level Deletion/Duplication) 11 GenesTest Code: 699CPT code(s): 81321x1, 81323x1, 81401x1, 81405x1, 81406x1ICD10 code(s):List price:Do you have a preferred clinical laboratory for genetic testing? __ NO (or not applicable) X YES, (provide preferred lab name): GeneDxPlease state the reason why testing should/must be performed at this laboratory: Only two genetic testing labs that offer panel testing for macrocephaly. The prices are comparable, but the gene offerings and turnaround times are different. The GeneDx panel contains genes of which we are most suspicious. The GeneDx panel offers sequencing and del/dup analysis while the other lab only offers sequence analysis. GeneDx turnaround time is 4 weeks as compared to 8 weeks for the other company.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? Macrocephaly is defined as a head circumference greater than the 98th percentile for age. Macrocephaly may occur for many reasons, including megalencephaly, hydrocephalus, cerebral edema, neoplasia, and structural anomalies. Syndromic forms of macrocephaly are often due to megalencephaly, which is a brain weight/volume ratio greater than the 98th percentile for age due to overgrowth of the CNS parenchyma. Individuals with syndromic macrocephaly due to overgrowth may also exhibit overgrowth in other areas of the body. Other features commonly observed in individuals with syndromic macrocephaly include developmental delay, hypotonia, increased risk for neoplasia, dysmorphic features, and birth defects. In many cases, macrocephaly and/or overgrowth are identified in the neonatal period, although in other cases the onset may be postnatal and not noted until childhood.-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: Inform on prognosis:Change treatment plan (e.g. medical or surgical decision-making or treatment): Some syndromic macrocephaly conditions require careful management using established protocols regarding initial evaluation and ongoing surveillance for associated anomalies and neoplasms. This may include neuroimaging, abdominal ultrasonography, echocardiogram, osseous survey, and ophthalmologic examination.Change surveillance (e.g. annual echocardiograms, either begin or stop): see aboveProvide information for family members: Multiple inheritance patterns exist for the syndromic macrocephaly syndromes. Identifying a specific syndrome will help us identify additional at risk family members and is useful when making family planning decisions.-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. The clinical sensitivity depends on the patient’s clinical phenotype. Specific information about the diagnostic yield for each gene in selected populations is summarized below. SyndromeGeneSensitivityCabezas synCUL4BXL ~3% of X-linked intellectual disabilityWeaver SynEZH2AD 5% patients with non-specific overgrowthGrieg cephalopolysyndactyly syn (GCPS), Pallister-Hall syn (PHS)GLI3AD 68% GCPS, 91% PHSSimpson-Golabi-Behmel syn (SGBS)GPC3XL 56% males with SGBSFG syn, Lujan synMED12XL 13% males with clinical diagnosis of FG synSotos syn-2, Marshall-Smith synNFIXAD 4% patients with Sotos-like features10Sotos synNSD1AD 90-93% of non-Japanese patients w/ Sotos syn63% Japanese patients w/ Sotos synBorjeson-Forssman-Lehmann syn (BFLS)PHF6XL 56% males with BFLSGorlin synPTCHAD 72% of patients with Gorlin syndromePTEN-related autism and Macrocephaly, Cowden syn (CS),Bannayan-Riley-Ruvalcaba syn (BRRS)PTENAD 2-17% of patients with autism spectrum disorders and macrocephaly81% of patients with CS71% of patients with BRRSLujan syn, FG syn, Nonsyndromic X-linked intellectual disabilityUPF3BXL ~1% X-linked intellectual disability-If this is a request is for a gene panel, then please describe why a single gene test is not as useful. Because of the significant clinical overlap and phenotypic heterogeneity of disorders causing syndromic macrocephaly, it can be difficult to make a clinical diagnosis, particularly in infancy. Additionally, variants in a single gene may be associated with a broad spectrum of clinical presentations (clinical heterogeneity).Therefore, a multi-gene panel is very useful in helping to establish the cause of syndromic macrocephaly. ................
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