Temple Syndrome/Maternal UPD 14

Test name:  Temple syndrome/Maternal UPD 14 (MatUPD 14)
Also known as: Methylation 14, Uniparental disomy (UPD) by UPD Array   

Indications: Clinical features may include prematurity, IUGR, low birth weight, short stature, hypotonia, hyperextensible joints, small hands and feet, cryptorchidism and micropenis, kyphoscoliosis, and mild truncal obesity. Mild to moderate motor delays with normal to moderate intellectual disability have been seen with Temple syndrome. Health concerns seen more commonly with Temple syndrome may include otitis media, hypercholesterolemia, advanced bone age, precocious puberty, postnatal hydrocephalus and prominent forehead.

Test Information: Temple syndrome is caused by absence of the paternal copy of chromosome region 14q32.2.

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

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Required forms: Postnatal Test Request Form

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

revised: 7-16-12