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Lab Dept:
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Anatomic Pathology
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Test Name:
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RETT SYNDROME (CDKL5) GENE SEQUENCING
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General Information
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Lab Order Codes:
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CDK
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Synonyms:
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CDKL5 Related Atypical Rett Syndrome
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CPT Codes:
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81406 – CDKL5, full gene analysis (Molecular Pathology procedure, level 7)
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Test Includes:
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Molecular diagnosis of patients with clinical features associated with CDKL5 mutation.
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Logistics
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Test Indications:
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Mutation in the CDKL5 gene on Xp22 are associated with mental retardation and severe neurological symptoms. The CDKL5 associated phenotype may be severe, with early-onset encephalopathy, infantile spasms, severe global developmental delay, and profound intellectual impairment seen in female and male patients. At the mild end of the spectrum are patients with mild mental retardation with autistic features. Many of these clinical features meet the criteria for the early-onset variant of Rett syndrome. Rett syndrome is caused by mutations in the MECP2 gene, and clinical symptoms include loss of speech and purposeful hand use, microcephaly, seizures, ataxia, and stereotypic hand movements. Mutation analysis of the CDKL5 gene should be considered in patients with the neurological phenotypes associated with mutations in this gene. In addition, patients who previously tested negative for comprehensive mutation analysis in the MECP2 gene are candidates for CDKL5 sequence analysis.
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Lab Testing Sections:
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Anatomic Pathology - Sendouts
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Referred to:
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Baylor College of Medicine Houston (Baylor test # 6126)
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Daily, 24 hours
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Turnaround Time:
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4 weeks
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Special Instructions:
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A requisition form must be sent with any specimen. Forms can be obtained through the following link: https://www.bcm.edu/geneticlabs/index.cfm?PMID=13669
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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3 – 5 mL blood (Adults/Children)
3 mL (Infants)
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture for blood specimens, invert gently to mix
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Special Processing:
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Lab Staff: Send whole blood in original collection container labeled with patient name, date of birth and medical record number, including requisition form.
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Patient Preparation:
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None
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Sample Rejection:
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Mislabeled or unlabeled specimens; frozen or heated specimens
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Interpretive
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Reference Range:
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Interpretive report
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Critical Values:
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N/A
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Limitations:
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N/A
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Methodology:
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PCR amplification
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References:
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Baylor College of Medicine Web Page March 2010
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Updates:
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2/11/2013: CPT updates
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