35ng의 gDNA로 실험 가능하며, GeneSystems (NGS 데이터 분석 플랫폼)을 이용하여 48시간 이내에 분석 가능
SNPs, indels, CNVs의 발견에 높은 민감도와 특이성을 가진 ultra-long RNA bait(120nt)를 사용
최소 20X depth로 sequencing할 경우, 98%이상의 coverage value를 가짐
The GeneSGKit® range | |
Cardiology | Cardio-GeneSGKit® Dyslipidemias-GeneSGKit® |
Cytogenetics | NIPT-GeneSGKit® NIPT- GeneSGKit® Advanced |
Endocrinology | Dyslipidemias-GeneSGKit® CFTR-GeneSGKit® |
Haematology | LMA-GeneSGKit® |
Internal Medicine | Dyslipidemias-GeneSGKit® Glycogenosis-GeneSGKit® Immunodeficiencies-GeneSGKit® |
Neurology | Glycogenosis-GeneSGKit Neuro-GeneSGKit |
Neuropaediatrics | DI-GeneSGKit Epilepsies-GeneSGKit LisosomalPeroxisomal-GeneSGKit Mitochondrial-GeneSGKit |
Oncology | GeneSGKit Specific Gene Onco-GeneSGKit Onco-GeneSGKit Mamma |
Otorhinolaryngology | Oto-GeneSGKit |
Paediatrics | CFTR-GeneSGKit DI-GeneSGKit Epilepsies-GeneSGKit Immunodeficiencies-GeneSGKit LisosomalPeroxisomal-GeneSGKit Mitochondrial-GeneSGKit Osteo-GeneSGKit |
Reproductive Health | DGP-GeneSGKit Precon-GeneSGKit |
HLA | HLA-GeneSGKit |