분류 대상질환 유전검사 종양관련 유전성유방암 BRCA 1 BRCA 2 유전성대장암 MLH1 MSH2 APC 일반암 p53 (exon4 LOH) 폐암 MAGE 신경아세포종 N-myc 질환관련 혈액질환 ABO Subtype Genotyping Major BCR/ABL Rearrangement Minor BCR/ABL Rearrangement TEL/AML1 Rearrangement PML/RARA Rearrangement AML1/ETO Rearrangement 신경질환 APOE Genotyping DRPLA (Dentatorubral Pallidoluysian Atrophy) HD (Huntington's disease) SBMA (Spinobulbar Muscular Atrophy) SCA 1,2,3,6,7,8 Profile (Spinocerebellar Ataxia) SCA1 (Spinocerebellar Ataxia 1) SCA2 (Spinocerebellar Ataxia 2) SCA3 (Spinocerebellar Ataxia 3) SCA6 (Spinocerebellar Ataxia 6) SCA7 (Spinocerebellar Ataxia 7) SCA8 (Spinocerebellar Ataxia 8) 근육질환 SMA (Spinal Muscular Atrophy, SMN/NAIP) DMD/BMD (Duchenne/Beaker Muscular Dystrophy) 발달장애 Fragile X Syndrome (FMR1 Gene) Prader-Willi/Angelman Syndrome 심혈관질환 ACE (Ins/Del) Genotyping MTHFR (C677T) Genotyping 기타   SRY (Sex Determining Region Y) ADRB3 (Trp64Arg) Leptin (A19G) PAI-1 4G/5G HUMPONA (Gln192Arg) Factor V Leiden (R506Q) TPA Insertion/Deletion VDR Bsml HLA-B27 Genotyping HLA-B51 Genotyping 친자감별 DNA Fingerprinting 이식관련 HLA HLA-A,B,C typing HLA-A typing HLA-B typing HLA-C typing HLA-DRB1 HLA-DQA1 HLA-DQB1 HLA-A High Resolution HLA-B High Resolution HLA-C High Resolution HLA-DR High Resolution HLA-DP High Resolution BMT Pre BMT Post BMT 감염증관련 감염증질환 C. trachomatis정성 (Amplicor) Mycoplasma hominis Mycoplasma genitalium Treponema pallidum Ureaplasma urealyticum N.gonorrheae HSV type I/Ⅱ PCR HIV RT PCR HPV screen PCR HPV 16/18 PCR HPV genotype HPV DNA probe M. tuberculosis정성 (Amplicor) M.tb-MDR M. Pneumoniae NTM 동정 Rubella Virus RT PCR CMV PCR EBV PCR parvovirus B19 PCR VZV PCR Enterovirus RT-PCR 간염질환 HBV 정성 HBV bDNA 정량 HBV DNA Hybrid capture (CMHA) HBV Monitor HBV Mutation & Genotype HCV 정성 (Amplicor) HCV Monitor(Amplicor) HCV-genotype HEV RT PCR