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Test Name:
Rett Syndrome (MECP2), Full Gene Analysis
- SBMF No:
45413 - Performance Lab Name:
ARUP Laboratories - Test Mnemonic:
RETT FGA - ABN:
Required – Not FDA-Approved - CPT Code:
83891; 83896; 83898x8; 83904x6; 83909x2; 83912; 83914 - LOINC Code:
19146-0; 19146-0 - Ref Lab Test No:
0051614 - Test Includes:
Rett Syndrome (MECP2), Deletion and Duplication
Rett Syndrome (MECP2), Full Gene Sequencing - Also See:
45412 – Rett Syndrome (MECP2), Deletion and Duplication
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:
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:
Full Gene Sequencing
Multiplex Ligation Probe Amplification - 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: Up to 95%.
Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries; Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large MECP2 deletions/duplications; oligonucleotide probes cover all MECP2 in the coding region
Analytical Sensitivity: 99% for sequencing and 90% for MLPA.
Analytical Specificity: 99% for sequencing and 98% for MLPA.
Limitations: Breakpoints of large deletions/duplications cannot be determined; deep intronic mutations will not be detected; 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 22 days - Test Type:
GENETIC
