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Laboratory Test Directory

Rett Syndrome Comprehensive

Components

Name Method Department Units
Rett Syndrome Comprehensive Multiplex ligation-dependent probe amplification (MLPA)
Sequencing
Send Out Genetics

Battery Members

MECP2 Sequencing, MECP2 Del/Dup

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

6 mL 5 mL
Stability

Refrigerated - 7 day(s)
Room temperature - 4 day(s)

Specimen Preparation

  • Mix EDTA tube by gentle inversion immediately after collection
  • Do not freeze
  • Do not centrifuge

Reasons for Rejection

  • Wrong collection tube
  • Frozen specimen
  • Heat treated specimen
  • Delayed or improper handling
  • Clotted specimen
  • Centrifuged specimen

Comments

Please include completed testing requisition along with the sample submissions. It is attached to this entry.

If the mutation to be tested in this individual is one previously identified in an affected family member, then this is not the correct test. Please order an XMIS test for Baylor test #6108.

 

CPT Code

  • 81302
  • 81304