RT Book, Section
A1 Hogge, W. Allen
A1 Rajkovic, Aleksandar
SR Print(0)
ID 1115993374
T1 Molecular Diagnostic Testing
T2 Practical Genetics for the Ob-Gyn
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 9780071797214
LK obgyn.mhmedical.com/content.aspx?aid=1115993374
RD 2024/04/19
AB The  goal  of  molecular  diagnostic  testing  is  to  provide  definitive  diagnoses  for  suspected  or  unknown  genetic  conditions.  A  precise  diagnosis  is  important  for  determining  what  caused  a  particular  birth  defect,  for  making  an  accurate  cancer  diagnosis,  for  assessing  predisposition  to  adult  disorders,  or  for  providing  potential  therapeutic  targets  for  present  and  future  treatments.  There  are  dozens  of  molecular-genetic  techniques  that  are  currently  utilized,  all  with  the  common  purpose  of  determining  pathologic  variations  in  the  primary  nucleotide  sequence  in  the  affected  subject.  Clinical  molecular  testing  can  be  divided  into  those  tests  that  look  at  the  sequence  of  a  specific  single  gene,  or  a  more  shotgun  approach  where  panels  of  genes  or  whole  exomes/genomes  are  sequenced  in  order  to  identify  the  cause  of  the  presenting  condition.  However,  whole  exome/genome  sequencing  provides  the  individual  not  only  with  a  diagnosis  that  explains  current  symptoms,  but  also  incidental  medically  actionable  health  information  that  may  have  significant  implications  for  the  patient  and  his/her  family.  Incidental  actionable  medical  information  includes  detecting  carrier  status  for  a  known  mendelian  disorder,  finding  susceptibility  genes  for  various  cancers,  such  as  BRCA1/BRCA2,  or  discovering  genetic  changes  that  affect  response  to  certain  drugs.