99970 (99970)    LAB LOINC (95.3)

Name Value
CODE 99970
COMPONENT HEREDITARY THROMBOCYTOPENIA MULTIGENE ANALYSIS
CHECK DIGIT 6
PROPERTY Finding
DATE LAST CHANGED 2022-02-16 00:00:00
CHANGE TYPE ADD
TIME ASPECT POINT
SYSTEM BLD/TISS
SCALE TYPE Document
METHOD TYPE MOLGEN
CLASS MOLPATH
FULLY SPECIFIED NAME HEREDITARY THROMBOCYTOPENIA MULTIGENE ANALYSIS:FIND:PT:BLD/TISS:DOC:MOLGEN
SHORTNAME IT MULTIGENE ANALYSIS BLD/T
LONG COMMON NAME HEREDITARY THROMBOCYTOPENIA MULTIGENE ANALYSIS IN BLOOD OR TISSUE BY MOLECULAR GENETICS METHOD
COMMENTS
Multigene analysis for inherited thrombocytopenia (IT), a group of hereditary di
sorders characterized by a reduced platelet count, abnormal platelet function, f
ollowed by impaired haemostasis. Over 40 genes have been known to cause differen
t forms of inherited thrombocytopenia. However, the identification of the underl
ying causative gene in a patient is challenging given the high degree of heterog
eneity. Testing does provide insight into the various clinical presentations and
 prognosis, where some defects can lead to hematological malignancies.[PMID: 312
75945]
MASTER ENTRY FOR VUID YES
VUID 5342653
EFFECTIVE DATE/TIME
  • 2022-04-11 00:00:00
    STATUS:   ACTIVE