94587-3LOINC 2.82
Germline disorder chromosome analysis in Amniotic fluid or Chorionic villus sample by Mate pair sequencing
Germline chromo analy Amn/CVS MPSeq
Definition
- 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.
Component
- Germline disorder chromosome analysis
Specimen / system
- Amnio fld/CVS
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Mate pair sequencing
Related names
- AF; Amn; Amn fl; Amn/CVS; Amnio; Amniotic flu; Amniotic fluid; Chorionic villi; Chorionic villus sample; Chrom analy; Chromosom; Chromosomes; Cytogenetics; Document; Finding; Findings; Genetics; Germline disorder chromo analy; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Karyotype; Molecular pathology; MOLPATH; MPSeq; Next generation sequencing; NGS; Point in time; Random
Index terms
- AF
- Amn
- Amn fl
- Amn/CVS
- Amnio
- Amniotic flu
- Amniotic fluid
- Chorionic villi
- Chorionic villus sample
- Chrom analy
- Chromosom
- Chromosomes
- Cytogenetics
- Document
- Finding
- Findings
- Genetics
- Germline disorder chromo analy
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- Karyotype
- Molecular pathology
- MOLPATH
- MPSeq
- Next generation sequencing
- NGS
- Point in time
- Random