Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81403
Test Code 
1257
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

Patients with neuroferritinopathy, also called neurodegeneration with brain iron accumulation, type 2, (NBIA2) or  dominant adult-onset basal ganglia disease [OMIM # 606159] are typically characterized with extrapyramidal features similar to Huntington disease or parkinsonism.  Patients with neuroferritinopathy characteristically have low serum ferritin levels, and brain MRI findings consistent with excess iron storage and cystic changes involving the globus pallidus and the putamen.  The imaging and histology findings are similar to those of neurodegeneration with brain iron accumulation 1 (NBIA1, formerly called Hallervorden-Spatz syndrome).

Mutations of the ferritin light chain gene (FTL) [OMIM #134790] have been identified in patients with neuroferritinopathy.  To date pathogenic mutations have been identified in exon 4 of the FTL gene. 460insA was the originally identified founder mutation in Cumbria, North West England, and has been found in the largest number of cases. Other mutations in the FTL gene have been observed in other patient populations.

To date, no deletions or duplications in the FTL gene as causative of neuroferritinopathy have been reported. Deletion/duplication analysis for FTL is performed by oligonucleotide array-CGH.