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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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CDKL5 - Related Disorders tests available.

CDKL5-Related Atypical Rett Syndrome | CDKL5-Related X-Linked Infantile Spasm Syndrome | Serine/threonine protein kinase 9 | STK9 | Epileptic Encephalopathy Early Infantile 2

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis CDKL5 Deletion/Duplication Analysis
Test Code: 6734
CDKL5 Deletion/Duplication Analysis
Test Code: 6734
CDKL5 Deletion/Duplication Analysis
Test Code: 6735

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.
Sequence & Deletion/Duplication Analysis CDKL5 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 6733
Sequence Analysis CDKL5 Sequence Analysis
Test Code: 6126
CDKL5 Sequence Analysis
Test Code: 6129

This test can only be performed if there is a previously identified familial mutation.
CDKL5 Sequence Analysis
Test Code: 6132

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.


CDKL5 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 6733
Test Includes: Sequence and Deletion/Duplication Analysis of CDKL5 gene.


Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#6129). For Carrier Testing with known familial mutation(s), please order test (#6129). Please see detailed requirements under this test code.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions and Multiplex Ligation-dependent Probe Amplification (MLPA) analysis is performed to detect gross deletion and duplications
Gene Name: CDKL5
Protein Name: Cyclin-dependent kinase-like 5
Test Type: Sequence & Deletion/Duplication Analysis
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 28 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81406x1, 81405x1


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