Are you still considered affected by Klippel-Feil syndrome if your genetic test comes back negative?
Klippel-Feil Syndrome (KFS) is most often diagnosed after clinical examination by a doctor and medical imaging by X-ray, magnetic resonance imaging (MRI), or computed tomography (CT) that detected fused cervical vertebrae. The KFS diagnosis is further confirmed by testing for other common symptoms of KFS in the heart, kidneys, spine, and lungs. Many times, genetic testing is then ordered by a genetics team to help clarify the inheritance pattern and underlying cause of the diagnosis; however, it is not needed to officially be diagnosed with KFS. In fact, many people with KFS will not have any mutations or changes found on genetic testing.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/klippel-feil-syndrome-109938/living-with/66948 • DATE UPDATED: 2019-07-26
Klippel-Feil Syndrome, NORD, https://rarediseases.org/rare-diseases/klippel-feil-syndrome/
"Isolated Klippel-Feil syndrome" Orphanet, https://www.orpha.net/consor/cg,i-bin/OC_Exp.php?Lng=GB&Expert=2345