Test name: Paternal UPD 14 (PatUPD 14)
Also known as: Methylation 14, Uniparental disomy (UPD) by UPD Array
Indications: Clinical features may include severe hypotonia, growth retardation, ventral wall differences such as omphalocele or abdominal wall hernias, bell shaped thorax causing breathing difficulties, short extremities, moderate to severe developmental and/or intellectual disability and facial features including blepharophimosis, prominent philtrum and micrognathia. Prenatally findings may present with short limbs, growth delay, hernia/omphalocele, bell-shaped thorax and polyhydramnios.
Test Information: Paternal UPD 14 is caused by absence of the maternal copy of chromosome region 14q32.
|Name of Test||Method|
|Uniparental disomy (UPD) study|
Additional tests available on postnatal samples (refer to additional pages for details):
Postnatal Chromosome Analysis
Postnatal FISH including Aneuploidy FISH and Constitutional FISH
Single gene testing – refer to Test Catalog for tests offered at HGL
Coming soon: Next Generation Sequencing
- One 2-5 ml whole blood sodium heparin (green top) tube AND one 2-5 ml whole blood EDTA (purple top) tube*
*If newborn/limited blood – one sodium heparin (green top) tube with 1ml minimum
CPT codes: 83890(x4), 83892(x4), 83894(x4), 83896(x4), 83898(x2), 83900(x2)
*Unless using stored DNA from a prior sample, the following DNA Extraction codes (83891, 83894, 83907, 84311) will also apply once for microarray/molecular testing.
Pricing: Contact the laboratory billing staff for current costs
Required forms: Postnatal Test Request Form
Turn-around time: Results are typically available in 4 weeks