Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

RETT SYNDROME DELETION ANALYSIS

General Information

Lab Order Codes:

RSDA

Synonyms:

MECP2 Deletion Analysis

CPT Codes:

81304 – MECP2 gene analysis, deletion/duplication variants

Test Includes:

N/A

Logistics

Test Indications:

Rett syndrome is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene which encodes the Methyl CpG Binding Protein 2 transcriptional repressor. Rett syndrome affects ~1 in 10,000 females with symptoms including loss of speech and purposeful hand use, microcephaly, seizures, ataxia, and stereotypic hand movements. MECP2 mutations manifest a broader spectrum of clinical phenotypes in female and rare male patients, with features overlapping with other mental retardation disorders. Mutations in the MECP2 coding region can be detected by sequence analysis in up to ~85% of Rett cases (see MECP2 Sequencing Analysis). In addition, large MECP2 gene deletions have been identified in approximately 10% of Rett patients. Our laboratory offers Southern analysis to detect gene rearrangements involving MECP2 (exons 1 through 4) for patients with a documented negative MECP2 sequencing study.

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

Baylor College of Medicine-Medical Genetics Laboratories (Baylor Test: 6069)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

3 weeks

Special Instructions:

This test is usually ordered when the MECP2 sequencing analysis test is negative. Please include completed Baylor Request Form and Consent Form.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

3 - 5 mL children/adults
3 mL infants

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture

Special Processing:

Lab Staff: Do Not centrifuge. Specimen should be kept in original collection container. Ship the specimen FedEX Monday through Friday only, ship at room temperatures. Saturday deliveries are accepted at Baylor.

Note: For specimens collected Saturday – Sunday (or on a holiday), they will be held in Children’s Laboratories at refrigerated temperatures and shipped at room temperature on Monday (or the next business day Monday – Friday).

Patient Preparation:

None

Sample Rejection:

Mislabeled or unlabeled specimens

Interpretive

Reference Range:

No mutations detected

Critical Values:

N/A

Limitations:

N/A

Methodology:

Southern Blot

References:

Baylor College of Medicine – Medical Genetics October 2013
(800) 411-4363 Fax (713) 798-2787

Updates:

2/11/2013: CPT update



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