Neurodegeneration with Brain Iron Accumulation (NBIA) Deletion/Duplication Panel

Cost 
$1,545.00
TAT 
4-6 weeks
CPT Code 
81407
Test Code 
1255
PDF icon Test Information Sheet
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Documents 
PDF icon General Requisition Form
Disorders 
Neurodegeneration with brain iron accumulation (NBIA)
Genes 
ATP13A2
C19orf12
COASY
CP
DCAF17
FA2H
FTL
PANK2
PLA2G6
WDR45
Notes 
If sending saliva, 2 kits are required.

NBIA (Neurodegeneration with Brain Iron Accumulation) is a group of genetic disorders characterized by iron accumulation in the basal ganglia. Brain iron accumulation can result in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. A minority of subtypes are associated with cognitive decline. Age of onset varies from infancy to late adulthood.   

Our NBIA Del/Dup Panel includes analysis of all of the following 9 genes: ATP13A2, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45