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Test Name:
Rett Syndrome (MECP2), Deletion and Duplication

• SBMF No:
  45412
• Performance Lab Name:
  ARUP Laboratories
• Test Mnemonic:
  RETTDELDUP
• ABN:
  Required – Not FDA-Approved
• CPT Code:
  83891; 83896; 83914; 83898; 83909; 83912
• Ref Lab Test No:
  0051618
• Also See:
  45413 – Rett Syndrome (MECP2), Full Gene Analysis
  45411 – Rett Syndrome (MECP2), Full Gene Sequencing
• Spec Type:
  Whole blood
• Spec Container:
  Lavender top (EDTA) or Pale Yellow top (ACD Solution A or B) tube
• Pref Vol:
  3.0 mL
• Min Vol:
  1.0 mL
• Fasting:
  No
• Patient Prep:
  Counseling and informed consent are recommended for genetic testing
  Consent forms are available online
• Spec Collect:
  Routine venipuncture
• Spec Process:
  Gently invert tube to mix
  Do not centrifuge
  Do not remove plasma from cells
  Specimen cannot be frozen
• Spec Store Transport:
  Refrigerated
• Spec Stability:
  24 hours room temperature (20-30°C)
  1 week refrigerated (2-8°C)
  Frozen (-20°C): Unacceptable
• Methodology:
  Multiplex Ligation Probe Amplification
• Clinical Significance:
  Refer to:
  
• Reference Range:
  
  Rett Syndrome (MECP2), Deletion and Duplication
  By report
  
  Interpretive Data:
  Background Information
  Characteristics: Classic Rett syndrome is a progressive neurodevelopmental disorder characterized by normal development until 6-18 months of age followed by rapid developmental regression, deceleration of head growth, loss of speech and acquired motor skills, and seizures; purposeful use of the hands is replaced by repetitive, stereotyped hand movements. MECP2-Related disorders include Rett-like syndrome, severe congenital encephalopathy, or mild to severe mental retardation.
  Incidence: 1 in 10,000.
  Inheritance: X-linked dominant; most cases are sporadic.
  Cause: Methyl-CpG-Binding Protine 2 (MECP2) gene mutations.
  Clinical Sensitivity: Up to 15%.
  Methodology: Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large MECP2 deletions/duplications; oligonucleotide probes cover the MECP2 coding region.
  Analytical Sensitivity: 90%
  Analytical Specificity: 98%
  Limitations: Breakpoints of large deletions/duplications cannot be determined; deep intronic mutations, single base pair substitutions and small deletions/duplications will not be detected; analytical sensitivity may be compromised by rare primer site mutations.
• Additional Test Info:
  

  Genetic Compliance Statement:
  The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

  Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

• Day Run:
  Sat, Mon
• Time Reported:
  8-15 days
• Test Type:
  GENETIC