Genetic Diagnostics
Applied Genetic Diagnostics designs and performs genetic diagnostic screens for a broad range of neurodegenerative diseases:
Alzheimer’s Disease
- APP exon 16 and 17 (DNA or RNA)
- PS1 full coding region (DNA or RNA)
- PS2 full coding region (RNA) or exons 4, 5 & 7 (DNA)
- APOE genotyping
Parkinson’s Disease / Parkinson’s-like disorders
- Parkin (PARK2) full coding region
- UCHL1 (PARK5) point mutations 193M, S18Y or full coding region
- SNCA (PARK1, alpha synuclein) point mutations A30P, E46K & A53T or full coding region
- DJ1 (PARK7) full coding region
- PINK1 (PARK6) full coding region
- LRRK2 (PARK8) full coding region or G2019S point mutation
- SNCAIP (synphilin1) full coding region
- ATP13A2 (PARK9) full coding region
- Nurr1 (NR4A2) two point mutations in the 5′UTR: -291Tdel & -245G>T
- GTPCH1 full coding region
- Tyrosine hydroxylase full coding region or known mutations (4 exons)
- PANK2 point mutations G411R and T418M
Spinocerebellar Ataxias
- SCA2 CAG repeat expansion
- SCA3 CAG repeat expansion
Tauopathy
- MAPT coding region and/or promoter region
- Progranulin (PGRN) full coding region
Creutzfeldt-Jakob Disease
- PRNP full coding region
Amyotrophic Lateral Sclerosis
- SOD1 full coding region (DNA or RNA)
Amyloid Polyneuropathy
- Transthyretin full coding region
Oligodendroglioma
- Microsatellite analysis of chromosomes 1p and 19q to determine loss of heterozygosity
Our genetic analyses are not limited to the tests above; we are happy to develop new analyses for specific patients or fields of interest, and also conduct large-scale clinical trial or project work.
All of the analyses above are performed on DNA unless otherwise stated; provide 2 x >5ml EDTA-PB tubes or tissue (paraffinised or fresh) for these analyses.
APOE genotyping can also be performed on buccal samples.
Many of these analyses also require patient consent and genetic counselling: these requirements are outlined in Counselling and Consent for Human Genetic Tests.