Appeal type: Medical necessity
Decision: Upheld

Diagnosis: Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy (CADASIL)
Treatment: Genetic testing for inheritable disorders (procedure code 81406)
The insurer denied coverage for genetic testing for inheritable disorders (procedure code 81406)
The denial is upheld

This case involves an adult female with a history of migraines, generalized anxiety disorder, and edema as well as a family history of strokes due to a Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy (CADASIL) gene mutation.  She was being recommended for notch 3 gene mutation analysis with claims that the molecular testing plays an important role in making a definitive diagnosis to help treat the patient appropriately.  Laboratory testing noted elevated blood urea nitrogen at 26, low anion gap of 4, elevated C-reactive protein at 0.56.  Renal ultrasound was normal.  The visit note noted the patient was being seen for follow-up.  She had edema with prominent and painful varicose veins in the lower extremity.  Her weight was fluctuating by 5 pounds in a single day.  She was taking Lasix and spironolactone, both which were tolerated well.  She had localized swelling to both lower legs, which have been present for several months.  The onset was progressive and had worsened.  The patient had a body mass index of 35.2.  She walks with a normal gait and was neurologically intact.  She reported occasional migraine headaches, but they were overall well controlled.  

Medical literature notes that cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the notch 3 gene.  Symptoms of this condition include migraine headaches and repeated strokes that can lead to dementia.  The records provided for the review stated that the patient had a family history of CADASIL.  The report claimed that the patient had occasional migraines but were overall well controlled.  Literature notes that sequencing of NOTCH3 is a critical component in the diagnosis of CADASIL.  This condition is not autosomal dominant inheritance, indicating that the patient's parents must have been a carrier.  However, records did not support that any other family member other than the patient's aunts carried the gene.  Additionally, given the occasional migraine headaches that were well controlled, there was an overall a lack of supporting information to justify the genetic testing.  The patient was not found to have met the profile for individuals who may be carriers of this gene.  Furthermore, there is no specific treatment for this disease, and it was unclear how results would change the course of the patient's care. Given the provided information, the gene mutation analysis was not considered a medical necessity.  

Based on the above, the insurer's denial must be upheld.   The health care plan did act reasonably and with sound medical judgment and in the best interest of the patient. 

The medical necessity for genetic testing for inheritable disorders (procedure code 81406) services is not substantiated.