SNRPN gene 15q11 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal

SNRPN 15q11 Del+Dup Bld/T FISH

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).

Amplification; Blood; Del; Del+Dup; Deletions; Dp; Fluorescent in situ hybridization; Genetics; HCERN3; Heredity; Heritable; Identity or presence; Inherited; Molecular pathology; MOLPATH; MOLPATH.DELETIONS; Nominal; Point in time; Prader Willi syndrome; PWCR; PWS; Random; RT-LI; small nuclear ribonucleoprotein polypeptide N; SM-D; SMN; sm-N; SNRNP-N; SNRPN 15q11; SNRPN 15q11 del+dup; SNURF-SNRPN; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue