Methylation Analysis

TEST NAME:   Methylation Analysis (of chromosomes 14 and 15)

ASSOCIATED DISORDERS:

  • Prader-Willi syndrome (PWS)
  • Angelman syndrome (AS)
  • Maternal Uniparental Disomy (UPD) 14 (Temple or Prader-Willi-like syndromes)
  • Paternal Uniparental Disomy (UPD) 14 (Wang syndrome)

INDICATIONS FOR TESTING:

  • Ataxia
  • Behavior problems
  • Bell shaped thorax, “coat hanger” ribs
  • Cryptorchidism
  • Delayed or precocious puberty
  • Developmental delay
  • Dysmorphic facial features
  • Feeding difficulties
  • Hypogonadism
  • Hypotonia in infancy
  • Intellectual disability
  • Kyphoscoliosis
  • Microcephaly
  • Obesity
  • Prenatal ultrasound anomalies including growth retardation
  • Seizures
  • Short stature
  • Small hands/feet
  • Speech impairment, apraxia
  • Stereotypic behaviors, such as inappropriate laughter/smiling

TEST INFORMATION:   Human genes are inactivated by methylation of cytosine to 5-methylcytosine. In typically developing individuals, genomic imprinting or differential methylation of alleles due to the parent of origin results in expression or suppression of parental alleles in a characteristic pattern at critical chromosomal regions.Our laboratory utilizes a methylation-specific PCR assay to identify methylation abnormalities of chromosome 14 and 15.

REQUIRED FORMS:   Postnatal Test Request Form

OTHER FORMS:   Request for Pre-Authorization for Genetic Testing (Postnatal Diagnoses on peripheral blood)


SPECIMEN COLLECTION & SHIPPING

SPECIMEN REQUIREMENTS:

  • Blood >3 mo of age: 3-5 ml in an EDTA tube (purple top) 
  • Blood (newborn minimum requirement): 1 ml in an EDTA tube (purple top)
  • Extracted DNA: 5 μg

CPT CODES:

  • Methylation Analysis of chromosome 14: 81402
  • Methylation Analysis of chromosome 15: 81331

PRICING:   Contact the laboratory billing staff for current costs 


TURN-AROUND-TIMES:   Results are typically available in 1-2 weeks; 5-7 days for newborn studies.


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contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

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