72654-7
LaboratorySNRPN gene 15q11 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal
Definition
Approximately 70% of cases of Prader-Willi syndrome (PWS) are caused by paternal deletion of the 15q11-q13 region. This region includes the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene. This code is based on, but not limited to, Kreatech Diagnostic's MD Prader-Willi SNRPN (15q11) region probe to detect copy numbers of the SNRPN gene region at 15q11. Labs may report the X number of cells out of Y number that have the probe deletion (or duplication), which is usually 100% if present (i.e. 20 out of 20, 100%). Result are reported in ISCN (International System for Human Cytogenetic Nomenclature) format. This test does not detect uniparental disomy (UPD, LOINC 34503-3), which may also cause PWS (and Angelman syndrome, AS).
LOINC 6-Axis Classification
Component
SNRPN gene 15q11 deletion+duplication
Property
Prid
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Nom
Method Type
FISH
Details
Class
MOLPATH.DEL
Order/Observation
Both
Short Name
SNRPN 15q11 Del+Dup Bld/T FISH
Display Name
SNRPN gene 15q11 del and dup mutation analysis FISH Nom (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 72654-7?
LOINC code 72654-7 identifies "SNRPN gene 15q11 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal". Approximately 70% of cases of Prader-Willi syndrome (PWS) are caused by paternal deletion of the 15q11-q13 region. This region includes the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene. This code is based on, but not limited to, Kreatech Diagnostic's MD Prader-Willi SNRPN (15q11) region probe to detect copy numbers of the SNRPN gene region at 15q11. Labs may report the X number of cells out of Y number that have the probe deletion (or duplication), which is usually 100% if present (i.e. 20 out of 20, 100%). Result are reported in ISCN (International System for Human Cytogenetic Nomenclature) format. This test does not detect uniparental disomy (UPD, LOINC 34503-3), which may also cause PWS (and Angelman syndrome, AS).
What does 72654-7 measure?
This code measures SNRPN gene 15q11 deletion+duplication in Bld/Tiss. It belongs to the MOLPATH.DEL class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.