: Chromosome 11p15 Methylation Deletion/Duplication Analysis, Amniotic Fluid

: What This Test Measures

: Chromosome 11p15 contains genes that are normally expressed in a parent-specific way, controlled by chemical tags called methylation. This analysis looks at whether those methylation marks are present in the expected pattern and whether there is a deletion (missing piece) or duplication (extra piece) of DNA in this region.

: Why It May Be Ordered

: A healthcare provider may order this test when there are concerns about abnormal growth before or after birth, developmental differences, or features that raise suspicion of an 11p15-related imprinting condition. Testing amniotic fluid can help assess the fetus during pregnancy.

: How the Sample Is Collected

: The sample is amniotic fluid, the fluid surrounding the fetus. It is collected by a procedure called amniocentesis, in which a provider uses a thin needle guided by ultrasound to draw a small amount of fluid. Your care team will explain the procedure, its risks, and what to expect.

: What the Results Can Mean

: Results indicate whether methylation at 11p15 is normal or altered and whether a deletion or duplication is present. Abnormal findings may support a diagnosis of an imprinting-related condition, but results are interpreted alongside clinical findings and sometimes other tests. Your provider or a genetics specialist will explain what your specific result means.