Molecular genetic test

Molecular genetic test (procedure)

active

Code	`405825005`
Semantic tag	procedure
Module	international
Definition	primitive
Effective time	20040131

Parents (1)

405824009Genetic test procedure

Children (103)

924981000000100Aldolase A fructose bisphosphate single mutation genetic test procedure
924991000000103Amylo-alpha-1,6-glucosidase single mutation test procedure
924721000000104Aneuploidy targeted genetic test procedure
925161000000105Apolipoprotein B-100 single mutation genetic test procedure
925171000000103Apolipoprotein B-100 targeted genetic test procedure
799441000000100BCR-ABL gene RNA (ribonucleic acid) transcript measurement procedure
932881000000103BRAF targeted genetic test procedure
405823003BRCA1 mutation carrier detection test procedure
405826006BRCA2 mutation carrier detection test procedure
924471000000107Breakpoint cluster region c-abl oncogene 1 non-receptor tyrosine kinase targeted genetic test procedure
932901000000100CALR (calreticulin) targeted genetic test procedure
326481000000107Charcot-Marie-Tooth disease type 1A gene detection test procedure
924651000000100Collagen, type IV, alpha 3 chain (Goodpasture antigen) comprehensive genetic test procedure
924641000000103Collagen, type IV, alpha 4 chain comprehensive genetic test procedure
924681000000106Collagen, type IV, alpha 5 chain comprehensive genetic test procedure
924671000000109Collagen, type IV, alpha 5 chain linkage genetic test procedure
924661000000102Collagen, type IV, alpha 5 chain single mutation genetic test procedure
924601000000101Collagen, type VII, alpha 1 chain comprehensive genetic test procedure
444260001Cystic fibrosis 20 common mutation test procedure
443530000Cystic fibrosis 29 common mutation test procedure
925131000000100Cystic fibrosis transmembrane conductance regulator comprehensive genetic test procedure
925071000000102Cystic fibrosis transmembrane conductance regulator linkage genetic test procedure
925081000000100Cystic fibrosis transmembrane conductance regulator single mutation genetic test procedure
925091000000103Cystic fibrosis transmembrane conductance regulator targeted genetic test procedure
924571000000108Cytochrome P450, family 2, subfamily C, polypeptide 9 targeted genetic test procedure
924561000000101Cytochrome P450, family 4, subfamily F, polypeptide 2 p.Val433Met single mutation genetic test procedure
444078002Detection of Arg3527Gln mutation in apolipoprotein B-100 gene procedure
444157002Detection of BCR-ABL translocation procedure
444149000Detection of factor V Leiden mutation and prothrombin G20210A mutation procedure
444032005Detection of mutation in apolipoprotein B-100 gene procedure
444226008Detection of mutation in low density lipoprotein receptor gene procedure
924971000000102Enolase 3 single mutation genetic test procedure
444225007Factor II (prothrombin) G20210A mutation detection procedure
383991000000101Factor II (prothrombin) G20210A mutation detection test procedure
443889002Factor VIII mutation carrier detection test procedure
925221000000106Familial hypercholesterolaemia comprehensive genetic test procedure
925211000000100Familial hypercholesterolaemia targeted genetic test procedure
405839005Familial medullary thyroid carcinoma mutation carrier detection test procedure
925061000000109Fragile X comprehensive genetic test procedure
925041000000108Fragile X linkage genetic test procedure
925051000000106Fragile X targeted genetic test procedure
118117001Gene mutation analysis procedure
924941000000108Glucan (1,4-alpha-) branching enzyme 1 single mutation genetic test procedure
924801000000102Glucose-6-phosphatase catalytic subunit comprehensive genetic test procedure
924961000000109Glucose-6-phosphatase catalytic subunit single mutation genetic test procedure
924781000000103Glucosidase alpha acid comprehensive genetic test procedure
924951000000106Glucosidase alpha acid single mutation test procedure
925001000000105Glycogen storage diseases comprehensive genetic test procedure
924931000000104Glycogen synthase 1 (muscle) single mutation genetic test procedure
924921000000101Glycogen synthase 2 (liver) single mutation genetic test procedure
924611000000104Hepatitis C targeted genetic test procedure
924711000000105Human leucocyte antigen class I comprehensive genetic test procedure
924701000000108Human leucocyte antigen class II comprehensive genetic test procedure
437742006Huntington disease gene mutation carrier detection test procedure
799701000000107Immunoglobulin heavy chain gene study procedure
792021000000109Immunoglobulin heavy chain locus mutation screening test procedure
284021000000109Janus kinase 2 V617F mutation analysis procedure
790981000000105Janus kinase 2 exon 12 mutation analysis procedure
924761000000107Kirsten rat sarcoma viral oncogene homolog targeted genetic test procedure
924901000000105Lactate dehydrogenase A single mutation genetic test procedure
925021000000101Learning disability microarray comprehensive genetic test procedure
925011000000107Learning disability microarray targeted genetic test procedure
925201000000102Low density lipoprotein receptor comprehensive genetic test procedure
925181000000101Low density lipoprotein receptor linkage genetic test procedure
925191000000104Low density lipoprotein receptor single mutation genetic test procedure
924911000000107Lysosomal associated membrane protein 2 single mutation genetic test procedure
2365491000000108MT-RNR1 (mitochondrially encoded 12S ribosomal RNA) variant analysis procedure
924631000000107Meticillin-resistant Staphylococcus aureus targeted genetic test procedure
925031000000104Mismatch repair microsatellite instability genetic test procedure
405837007Multiple endocrine neoplasia type 2A mutation carrier detection test procedure
405838002Multiple endocrine neoplasia type 2B mutation carrier detection test procedure
924521000000109Myeloproliferative disorder comprehensive genetic test procedure
405832001Neurofibromatosis type 1 mutation carrier detection test procedure
405836003Neurofibromatosis type 2 mutation carrier detection test procedure
924881000000107Phosphofructokinase (muscle) single mutation test procedure
924871000000105Phosphoglycerate mutase 2 (muscle) single mutation genetic test procedure
924831000000108Phosphorylase glycogen (liver) single mutation genetic test procedure
924821000000106Phosphorylase glycogen (muscle) single mutation genetic test procedure
924861000000103Phosphorylase kinase alpha 2 (liver) single mutation genetic test procedure
924851000000101Phosphorylase kinase beta single mutation genetic test procedure
924841000000104Phosphorylase kinase gamma 2 (testis) single mutation genetic test procedure
925141000000109Proprotein convertase subtilisin/kexin type 9 single mutation genetic test procedure
925151000000107Proprotein convertase subtilisin/kexin type 9 targeted genetic test procedure
888801000000105Protocadherin 19 mutation analysis procedure
443528002Quantitation of BCR-ABL translocation procedure
790791000000109Screen for Janus kinase 2 gene mutation procedure
924791000000101Solute carrier family 37 (glucose-6-phosphate transporter) member 4 comprehensive genetic test procedure
924811000000100Solute carrier family 37 (glucose-6-phosphate transporter) member 4 single mutation genetic test procedure
443982007Targeted analysis for gene mutation procedure
443981000Testing for known gene mutation in family member procedure
924621000000105Tubercle bacillus targeted genetic test procedure
912911000000108Urine prostate cancer antigen 3 targeted genetic test procedure
924731000000102V-raf murine sarcoma viral oncogene homolog B comprehensive genetic test procedure
924771000000100V-raf murine sarcoma viral oncogene homolog B p.Val600Glu single mutation genetic test procedure
924581000000105Vitamin K epoxide reductase complex subunit 1 single mutation genetic test procedure
924591000000107Vitamin K epoxide reductase complex subunit 1 targeted genetic test procedure
405835004Von Hippel-Lindau disease mutation carrier detection test procedure
51201000000109WGS - whole genome sequencing procedure
924531000000106del 22q11 targeted genetic test procedure
924751000000109mutL homolog 1 promoter targeted genetic test procedure
924741000000106mutS homolog 2 promoter targeted genetic test procedure
924551000000104von Willebrand factor comprehensive genetic test procedure
924541000000102von Willebrand factor single mutation genetic test procedure