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Test Name:
Rett Syndrome (MECP2), Full Gene Sequencing
- SBMF No:
45411 - Performance Lab Name:
ARUP Laboratories - Test Mnemonic:
RETT FGS - ABN:
Required – Not FDA-Approved - CPT Code:
83891; 83898x7; 83904x6; 83909; 83912 - Ref Lab Test No:
0051378 - Also Known As:
MECP2 - Also See:
45413 – Rett Syndrome (MECP2), Full Gene Analysis
45412 – Rett Syndrome (MECP2), Deletion and Duplication - Spec Type:
Whole blood - Spec Container:
Lavender top (EDTA) or Pale Yellow top (ACD Solution A or B) tube - Pref Vol:
5.0 mL - Min Vol:
1.0 mL - Fasting:
No - Patient Prep:
Counseling and informed consent are recommended for genetic testing
Consent forms are available online at www.aruplab.com - 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 - Spec Reject:
Hemolyzed sample - Methodology:
Polymerase Chain Reaction (PCR)
Sequencing - Clinical Significance:
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 Protein 2 (MECP2) gene mutations.
Clinical Sensitivity: 80%.
Methodology: Bidirectional sequencing of the entire MECP2 coding region and intron/exon boundaries.
Analytical Sensitivity and Specificity: 99%
Limitations: Deep intronic mutations and large deletions/duplications will not be identified; analytical sensitivity may be compromised by rare primer site mutations. - Reference Range:
By report - Additional Test Info:
This test is performed pursuant to an agreement with Roche Molecular Sytems, Inc.
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. - Day Run:
Varies - Time Reported:
Within 15 days - Test Type:
GENETIC
