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Test Code MECP2 MECP2 Gene, Full Gene Analysis, Varies

Useful For

Diagnosis of Rett syndrome or other MECP2-related disorders

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

MECP2 Gene, Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

No specimen should be rejected.

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly, varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81302-MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; full sequence analysis

81304-MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; duplication/deletion variants

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MECPZ MECP2 Gene, Full Gene Analysis 35137-9

 

Result ID Test Result Name Result LOINC Value
53512 Result Summary 50397-9
53513 Result 82939-0
53514 Interpretation 69047-9
53515 Additional Information 48767-8
53516 Specimen 31208-2
53517 Source 31208-2
53518 Released By 18771-6

Secondary ID

35484

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions

3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.

Testing Algorithm

See Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instruction.