Paternal UPD 14

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.

Additional tests available on postnatal samples (refer to additional pages for details):
     Postnatal Chromosome Analysis
     Postnatal FISH including Aneuploidy FISH and Constitutional FISH
     180K Microarray
     Single gene testing – refer to Test Catalog for tests offered at HGL
     Coming soon: Next Generation Sequencing

Specimen requirements:

• 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 

Shipping & Handling 

Required forms: Postnatal Test Request Form 

Turn-around time: Results are typically available in 4 weeks

 revised: 7-16-12