Germline whole genome sequencing (procedure)
| Code | 62151000000100 |
|---|---|
| Semantic tag | procedure |
| Module | uk-edition |
| Definition | primitive |
| Effective time | 20190601 |
51201000000109WGS - whole genome sequencing
procedure
63311000000109Congenital malformation and dysmorphism syndromes germline WGS (whole genome sequencing) using microarray and sequencing
procedure
63021000000100Germline WGS (whole genome sequencing) targeting adult onset hereditary ataxia panel
procedure
63081000000104Germline WGS (whole genome sequencing) targeting arthrogryposis broad panel
procedure
63131000000104Germline WGS (whole genome sequencing) targeting cerebral malformations panel
procedure
63051000000105Germline WGS (whole genome sequencing) targeting childhood onset hereditary ataxia and cerebellar anomalies panel
procedure
63071000000101Germline WGS (whole genome sequencing) targeting childhood onset hereditary spastic paraplegia panel
procedure
63151000000106Germline WGS (whole genome sequencing) targeting childhood onset white matter disorders panel
procedure
62991000000105Germline WGS (whole genome sequencing) targeting craniosynostosis panel
procedure
63161000000109Germline WGS (whole genome sequencing) targeting cystic renal disease panel
procedure
63061000000108Germline WGS (whole genome sequencing) targeting early onset or syndromic epilepsy panel
procedure
63111000000107Germline WGS (whole genome sequencing) targeting holoprosencephaly panel
procedure
63121000000101Germline WGS (whole genome sequencing) targeting hydrocephalus panel
procedure
62971000000106Germline WGS (whole genome sequencing) targeting hypotonic infant panel
procedure
63011000000106Germline WGS (whole genome sequencing) targeting inborn errors of metabolism panel
procedure
62961000000104Germline WGS (whole genome sequencing) targeting intellectual disability panel
procedure
63001000000109Germline WGS (whole genome sequencing) targeting neonatal diabetes panel
procedure
63091000000102Germline WGS (whole genome sequencing) targeting neuromuscular disorders panel
procedure
63141000000108Germline WGS (whole genome sequencing) targeting severe microcephaly panel
procedure
62981000000108Germline WGS (whole genome sequencing) targeting skeletal dysplasia panel
procedure
63301000000107Ultra-rare and atypical monogenic disorders germline WGS (whole genome sequencing)
procedure