LOINC display name : SNRPN gene 15q11 del and dup mutation analysis FISH Nom (Bld/Tiss);
LOINC long common name : SNRPN gene 15q11 deletion and duplication mutation analysis [Identifier] in Blood
or Tissue by FISH Nominal;
LOINC short name : SNRPN 15q11 Del Dup Bld/T FISH;
LOINC description : 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).;
Has component