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genotyping (allele testing)

determining the genotype of an individual Methods: 1) PCR 2) DNA sequencing 3) ASO probes 4) hybridization to DNA microarrays or beads

Related

genotype phenotyping

Specific

16p.11.2 chromosome region genotyping 70-gene signature expression profile Angelman syndrome (AS) genotyping apolipoprotein E genotype ARSA gene PD allele ASXL1 genotyping BCKDHB genotyping BDNF genotyping beta globin (HBB) genotyping breast/ovarian cancer genotyping Burkitt's lymphoma genotyping childhood spinal muscular atrophy genotyping chronic myelogenous leukemia genotyping CLL genotyping CMT1 genotyping; Charcot-Marie-Tooth disease type 1 (demyelinating) genotyping CMT2 genotyping; Charcot-Marie-Tooth disease type 2 (axonal) genotyping colon cancer genotyping CYP21 (steroid 21-hydroxlase) genotyping (CAHDetx) CYP2C19 genotyping; CYP2C19 allele testing CYP2C9 allele CYP2D6 genotyping cystic fibrosis (CFTR) genotyping cytochrome P450 genotyping; CYP genotyping DMPK genotyping Duchenne/Becker muscular dystrophy genotyping endometrial cancer genotyping factor IX genotyping; hemophilia B genotyping follicular lymphoma genotyping forensic identity genotyping Fragile X syndrome genotyping FSHD genotyping; facioscapulohemeral dystrophy gene (DUX4) genotyping G6PD genotyping GALT gene allele 1 in blood GALT gene allele 2 in blood GJB1 genotyping haptoglobin genotyping HBA1/HBA2 genotyping HCM genotyping; hypertrophic cardiomyopathy genotyping hemoglobin genotyping hepatitis A virus genotype Hepatitis B virus genotyping hepatitis C genotyping hepatitis D virus genotyping Hepatitis E virus genotyping hepatocellular carcinoma genotyping hereditary peripheral neuropathy genotyping HIV1 genotyping (GenoSure) holoprosencephaly genotyping human leukocyte antigen (HLA) genotyping Huntington's disease genotyping; HTT genotyping IKBKAP genotyping KIR genotyping LCA genotyping; Leber's congenital amaurosis genotyping LHON syndrome genotyping; Leber hereditary optic neuropathy genotyping Li-Fraumeni syndrome genotyping long QT syndrome genotyping lung cancer genotyping MCOLN1 genotyping measles virus genotyping MECP2 genotyping MELAS syndrome genotyping MERRF syndrome genotyping methylenetetrahydrofolate reductase (MTHFR) genotyping mitochondrial myopathy genotyping Mycobacterium genotyping Mycobacterium tuberculosis genotyping myotonic dystrophy genotyping neurofibromatosis-1 genotyping neurofibromatosis-2 genotyping ovarian cancer genotyping pancreatic adenocarcinoma genotyping paternity genotyping PCR/southern blot/in-situ hybridization for cervical cancer PEO genotyping; progressive external ophthalmoplegia genotyping peripheral myelin protein 22 (PMP22) genotyping peripheral neuropathy genotyping plasminogen activator inhibitor-1 genotyping platelet antigen genotyping platelet antigen genotyping in blood platelet genotyping PMS2 genotyping Prader-Willi/Angelman syndrome genotyping prostate cancer genotyping prothrombin genotyping PSAP genotyping pyruvate kinase genotyping renal cell carcinoma genotyping retinoblastoma genotyping RhCE (Rhesus C/E antigen) genotyping RUNX1 genotyping SLCO1B1/SLC21A6 genotyping SOD1 gene allele 1 SOD1 gene allele 2 TOP2A gene genotyping; topoisomerase 2-alpha genotyping trisomy X testing; gene XXX mutations (in Loinc) TTR genotyping TYMS genotyping UGT1A1 genotyping UGT2B15 genotyping vitamin K epoxide reductase allele/allele (VKORC1 gene mutation) X-linked bulbospinal muscular atrophy genotyping

General

molecular diagnostic test

References

  1. Wikipedia: genotyping http://en.wikipedia.org/wiki/Genotyping