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Neurodegenerative diseases

Disease (gene) Method Material Processing time
Alzheimer disease 1, familial (APP)* 1. Sequencing exons 16 & 17
2. Del./dup. analysis (MLPA)
3. Sequencing (complete)
EDTA blood 1. 8-10 days
2. 8-10 days
3. 2-3 weeks
Alzheimer disease 3, familial (PSEN1)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Alzheimer disease 4, familial (PSEN2)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Amyotrophic lateral sclerosis 1 (SOD1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Amyotrophic lateral sclerosis 2 (ALS2)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Angelman syndrome* 1. Methylation-sensitive MLPA
2. UBE3A sequencing (complete)
EDTA blood 1. 8-10 days
2. 2-3 weeks
Ataxia-Oculomotor Apraxia 1 (APTX)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Ataxia-Oculomotor Apraxia 2 (SETX)* Sequencing (complete) & MLPA EDTA blood 3-4 weeks
Ataxia-Telengiectasia (ATM)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
CHARGE syndrome (CHD7)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Deafness, autosomal recessive, 1A (GJB2)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Episodic ataxia 2 (CACN1A1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Episodic ataxia 5 (CACNB4)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Epileptic encephalopathy, early infantile, 1 (ARX)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Huntington disease (HD) CAG trinucleotide repeat length determination EDTA blood / DNA 8-10 days
Huntington disease-like 1 (PRNP)* Sequencing (complete) EDTA blood / DNA 1-2 weeks
Huntington disease-like 2 (JPH3)* CAG/CTG trinucleotide repeat length determination EDTA blood / DNA 8-10 days
Friedreich Ataxia 1 (FXN)* 1. GAA trinucleotide repeat length determination
2. Sequencing (complete) & MLPA
EDTA blood 1. 8-10 days
2. 1-2 weeks
Fronto-temporal dementia (MAPT, GRN)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Limb-girdle muscular dystrophy 1C (CAV3)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Limb-girdle muscular dystrophy 2A (CAPN3)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Limb-girdle muscular dystrophy 2B (DYSF)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Limb-girdle muscular dystrophy 2D (SGCA)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Muscular dystrophy, Duchenne / Becker (DMD) 1. Deletion/duplication analysis (MLPA)
2. Sequencing (complete)
EDTA blood 1. 8-10 days
2. 3-4 weeks
Muscular dystrophy, congenital, 1C (FKRP)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Muscular dystrophy, oculopharyngeal (PABPN1)* GCG trinucleotide repeat length EDTA blood / DNA 8-10 days
Myopathy, Bethlem (COL6A1, COL6A2, COL6A3)* Sequencing (complete) EDTA blood / DNA 3-6 weeks
Myotonic Dystrophy 1 (DMPK)* CTG trinucleotide repeat length determination EDTA blood / DNA 8-10 days
Neuraxonal Dystrophy, infantile (PLA2G6)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Neurodegeneration with Brain Iron Accumulation 1 (PANK2)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Norrie disease (NDP)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Parkinson disease 1 (SNCA)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Parkinson disease 2 (PARK2)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Parkinson disease 6 (PINK1)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Parkinson disease 7 (DJ1)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Parkinson disease 9 (ATP13A2)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Prader-Willi syndrome* Methylation-sensitive MLPA EDTA blood 8-10 days
Prion disease (PRNP)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Rett syndrome (MECP2)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Rett syndrome, atypical (CDKL5)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Rett syndrome, congenital (FOXG1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Spinal and Bulbar Muscular Atrophy, X-linked (AR)* CAG trinucleotide repeat length determination EDTA blood / DNA 8-10 days
Spinal muscular atrophy 1, 2, 3, 4 (SMN1)* 1. Deletion/duplication analysis (MLPA)
2. Sequencing (complete)
EDTA blood 1. 8-10 days
2. 2-3 weeks
Spinocerebellar Ataxia 1 (ATXN1)* CAG trinucleotide repeat length determination EDTA blood / DNA 8-10 days
Spinocerebellar Ataxia 2 (ATXN2)* CAG trinucleotide repeat length determination EDTA blood / DNA 8-10 days
Spinocerebellar Ataxia 3 (ATXN3)* CAG trinucleotide repeat length determination EDTA blood / DNA 8-10 days
Spinocerebellar Ataxia 5 (SPTBN2)* 1. Sequencing ex. 7 (L253P), ex. 12 (c.1592-1630del, ex. 14 (c.1886-1900del)
2. Sequencing (complete)
EDTA blood / DNA 1. 8-10 days
2. 3-4 weeks
Spinocerebellar Ataxia 6 (CACNA1A)* CAG trinucleotide repeat length determination EDTA blood / DNA 8-10 days
Spinocerebellar Ataxia 7 (ATXN7)* CAG trinucleotide repeat length determination EDTA blood / DNA 8-10 days
Spinocerebellar Ataxia 8 (SCA8)* CAG/CTG trinucleotide repeat length determination EDTA blood / DNA 8-10 days
Spinocerebellar Ataxia 10 (ATXN10)* ATTCT pentanucleotide repeat length determination EDTA blood / DNA 8-10 days
Spinocerebellar Ataxia 12 (PPP2R2B)* CAG trinucleotide repeat length determination EDTA blood / DNA 8-10 days
Spinocerebellar Ataxia 13 (KCNC3)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Spinocerebellar Ataxia 14 (PRKCG)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Spinocerebellar Ataxia 17 (TBP)* CAA/CAG trinucleotide repeat length determination EDTA blood / DNA 8-10 days
Spinocerebellar Ataxia 27 (FGF14)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
* analysis currently not accredited

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