List of diseases covered by Neurodegeneration with Brain Iron Accumulation NGS panel

List of diseases covered by
Neurodegeneration with Brain Iron Accumulation
NGS panel

Gene Condition
ATP13A2 Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive
COASY Neurodegeneration with brain iron accumulation 6
C19orf12 Neurodegeneration with brain iron accumulation 4;
Spastic paraplegia 43, autosomal recessive
CP Cerebellar ataxia
DCAF17 Woodhouse-Sakati syndrome
FA2H Spastic paraplegia 35, autosomal recessive
FTL Neurodegeneration with brain iron accumulation 3;
Hyperferritinemia-cataract syndrome; L-ferritin deficiency,
dominant and recessive
PANK2 Neurodegeneration with brain iron accumulation 1; HARP syndrome
PLA2G6 Neurodegeneration with brain iron accumulation 2B;
Infantile neuroaxonal dystrophy 1;
Parkinson disease 14, autosomal recessive
WDR45 Neurodegeneration with brain iron accumulation 5

Neurodegeneration with Brain Iron Accumulation NGS panel

Neurodegeneration with Brain Iron Accumulation
NGS panel

Genes: ATP13A2, COASY, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45

List of diseases covered by the panel


Price / TAT: 1051 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: PANK2, PLA2G6

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form