Appeal type: Medical necessity
Decision: Overturned

Diagnosis: Prolonged Q-T interval 
Treatment: Genetic testing 

The insurer denied the genetic testing. The denial is overturned. The genetic testing is medically necessary. 

This female has a personal history of prolonged Q-T interval and had an episode of syncope five years ago. She is taking a beta blocker. There is a possible family history of hereditary arrhythmia since her paternal grandfather died in his 70s from heart failure and grandfather's sister had a sudden death at age ten, felt to be cardiac related. She may have the hypermobility form of Ehlers-Danlos syndrome, postural orthostatic tachycardia syndrome (POTS), and she also has an abnormal uterus shape, non-toxic goiter, and multiple cafe au lait macules. 

Molecular genetic gene panel testing for hereditary arrhythmia syndromes and long QT syndrome identified a possible duplication involving the CACNA1C gene. However, the gene panel results cannot determine whether or not additional genes are duplicated in the same chromosomal region on chromosome 12. 

The results of this testing may modify her surveillance, will help define her diagnosis and refine her prognosis, and may have importance for future reproductive planning for her and/or other family members. 

Performing chromosomal MicroArray and FISH to determine whether or not this woman has a larger chromosomal duplication involving chromosome 12, a related balanced or unbalanced chromosomal translocation, and/or any other chromosomal micro duplication/microdeletion, is medically necessary and clinically appropriate, is consistent with and is a standard of care in medical genetics, may refine her prognosis, define her diagnosis, and provide reproductive information to her and/or other family members. This testing is not unproven and is well supported by authoritative, peer-reviewed, published medical literature, examples of which are cited and discussed above. 

Chromosomal MicroArray/Array Comparative Genomic Hybridization (CMA/CGH) and FISH in this patient: is medically necessary, and clinically appropriate in this clinical context. It is consistent with the diagnosis of this patient's medical problems, is in accordance with recognized reliable standards of care for individuals with possible chromosomal duplications or deletions, as discussed below. It is appropriate and in accordance with the generally accepted Reliable "best practices" in medical genetics and pediatric neurology and meets the generally accepted Reliable standards of medical practice and the most up-to-date recommendations of the major professional medical genetic and pediatric neurology organizations in the United States; is clinically appropriate for individuals with chromosomal duplications or deletions suggested by other molecular genetic testing; the available authoritative, peer-reviewed, published scientific evidence clearly demonstrates identification of specific chromosomal duplication deletion syndromes to be effective in improving health outcomes; its use is not for the convenience of the member, physician, or other health care practitioner. In addition, this testing is lawfully marketed for the proposed use and is performed in Clinical Laboratory Improvement Amendments (CLIA) approved laboratories. Its use is not solely for the convenience of the affected individual, his or her physician, plan provider, hospital, or other health care provider and is the most appropriate level of diagnostic service for this patient. This testing is well supported by reliable, authoritative, peer-reviewed, published medical literature and is considered a standard of care in medical genetics, developmental pediatrics, and pediatric neurology.