LOINC long common name : Germline disorder chromosome analysis in Amniotic fluid or Chorionic villus sample
by Mate pair sequencing;
LOINC short name : Germline chromo analy Amn/CVS MPSeq;
LOINC description : This term is used for the order & overall report for chromosome analysis by sequencing
methods, such as mate pair sequencing, for the detection of germline (congenital)
chromosome abnormalities in amniotic fluid or chorionic villus sampling (CVS) specimens.
Results may include the overall findings, the result in ISCN format, testing methods,
interpretation, recommendations, and references. Testing is performed when previous
cytogenetic studies are unsuccessful or detect a chromosome abnormality of unknown
significance. Results provide diagnostic, prognostic, and therapeutic information
for patient care.;