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Laboratory Test Directory

Atypical Rett Syndrome, CDKL5 Comprehensive

Components

Name Method Department Units
Atypical Rett Syndrome, CDKL5 Comprehensive Multiplex ligation-dependent probe amplification (MLPA)
Sequencing
Send Out Genetics

Battery Members

CDKL5 Sequencing, CDKL5 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 centrifuge
  • Do not freeze
  • Transport to laboratory as soon as possible

Reasons for Rejection

  • Wrong collection tube
  • Heat treated specimen
  • Frozen specimen
  • Centrifuged specimen

Comments

This test involves both sequencing and deletion/duplication analysis of the CDKL5 gene. 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 code. That would need to be placed as an XMIS order for Baylor test #6129 for Carrier Testing with known familial mutation(s).

Please include completed test requisition along with the sample submissions. It is attached to this entry. Select the box for test code 6733, CDKL5 Comprehensive (Seq & Del/Dup Analysis).

CPT Code

  • 81406
  • 81405