Does Not Apply to Commercial Genetic Testing Program effective 6/1/2018
CHARGE syndrome is a rare genetic condition associated with multiple congenital anomalies. The letters of CHARGE syndrome corresponds to clinical features: C = ocular Coloboma, H = Heart defect, A = Atresia choanae, R = Retarded growth and development, G = Genital hypoplasia and E = Ear anomalies/deafness. However, a number of other malformations are also common in this condition. In particular, hypoplasia of the semi-circular canals has emerged as a frequent and distinctive CHARGE malformation. The condition is caused by mutations of the CHD7 gene on chromosome 8q12.1. CHD7 is the only gene currently known to be associated with CHARGE syndrome.
In many individuals, the diagnosis can be made based on clinical findings. However, the phenotype of the disease is highly variable, and some patients do not fulfill all the criteria for diagnosis by clinical findings. Major characteristics include ocular coloboma, choanal atresia or stenosis, cranial nerve abnormality, ear anomalies or deafness. Minor characteristics include genital hypoplasia, hypogonadotrophic hypogonadism, developmental delays, cardiac malformations, short stature, cleft lip and/or cleft palate, tracheoesophageal fistula, and distinctive CHARGE facial appearance, which consist of a prominent forehead and a prominent nasal bridge. Other, less frequent manifestations include kidney malformations, immunodeficiency, various limb abnormalities, scoliosis, dental problems, omphalocele, brain malformations, attention deficit hyperactivity disorder (ADHD), and various behavioral problems.
Most instances of CHARGE syndrome are sporadic events in a family and appear to be caused by de novo CHD7 mutations, but on rare occasions CHARGE can be inherited as an autosomal dominant condition. Recurrence in siblings because of germline mosaicism has also been reported. The prevalence of CHARGE syndrome is estimated at 1 in 8,500 live births.
Genetic testing for CHARGE syndrome is considered medically necessary if the medical appropriateness criteria are met. (See Medical Appropriateness below.)
Pre- and post-genetic counseling as an adjunct to genetic testing is considered medically necessary.
Genetic testing for CHARGE syndrome in all other situations is considered investigational.
Genetic testing is considered medically appropriate if ALL of the following criteria are met:
To confirm a diagnosis in individuals with signs/symptoms of CHARGE syndrome
Definitive diagnosis cannot be made with clinical criteria
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We develop Medical Policies to provide guidance to Members and Providers. This Medical Policy relates only to the services or supplies described in it. The existence of a Medical Policy is not an authorization, certification, explanation of benefits, or a contract for the service (or supply) that is referenced in the Medical Policy. For a determination of the benefits that a Member is entitled to receive under his or her health plan, the Member's health plan must be reviewed. If there is a conflict between the Medical Policy and a health plan, the express terms of the health plan will govern.
A diagnosis of definite CHARGE syndrome can be made clinically in individuals with all four major characteristics or three major and three minor characteristics. In patients without the classical clinical criteria to diagnose CHARGE, in those with a milder phenotype, and/or in those with features that overlap with and cannot be distinguished from other syndromes, genetic testing may provide a definitive diagnosis.
American Academy of Pediatrics. (2013). Policy Statement: Ethical and policy issues in genetic testing and screening of children. Retrieved March 6, 2017 from www.pediatrics.org.
American College of Medical Genetics and Genomics. (2013). Technical report: ethical and policy issues in genetic testing and screening of children. Retrieved February 20, 2018 from http://www.acmg.net/docs/gim-issues_in_genetic_testing_in_children_3-2013.pdf.
BlueCross BlueShield Association. Medical Policy Reference Manual. (2:2018). Genetic testing for CHARGE syndrome (2.04.106). Retrieved February 20, 2018 from BlueWeb. (17 articles and/or guidelines reviewed)
Ravenswaaij, C., Blake, K., Hoefsloot, L., & Verloes, A. (2015). Clinical utility gene card for: CHARGE syndrome - update 2015. European Journal of Human Genetics, 23, doi:10.1038/ejhg.2015.15. (Level 2 evidence)
ORIGINAL EFFECTIVE DATE: 2/9/2014
MOST RECENT REVIEW DATE: 1/10/2019
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