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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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MECP2 - Related Disorders tests available.

Classic Rett Syndrome | MECP2-Related Severe Neonatal Encephalopathy | PPM-X Syndrome

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis MECP2 Deletion/Duplication Analysis
Test Code: 6069

Approximately 85% of females with Rett syndrome have MECP2 mutations detected by sequence analysis (#6068) and approximately 10% have copy number mutations (#6069). Testing may be ordered sequentially (1. #6068; 2. #6069) or concurrently, MECP2 Comprehensive (#6736).
MECP2 Deletion/Duplication Analysis
Test Code: 6069

Approximately 85% of females with Rett syndrome have MECP2 mutations detected by sequence analysis (#6068) and approximately 10% have copy number mutations (#6069). Testing may be ordered sequentially (1. #6068; 2. #6069) or concurrently, MECP2 Comprehensive (#6736).
MECP2 Deletion/Duplication Analysis
Test Code: 6109

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 MECP2 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 6736
Sequence Analysis MECP2 Sequence Analysis
Test Code: 6068

Approximately 85% of females with Rett syndrome have MECP2 mutations detected by sequence analysis (#6068) and approximately 10% have copy number mutations (#6069). Testing may be ordered sequentially (1. #6068; 2. #6069) or concurrently, MECP2 Comprehensive (#6736).
MECP2 Sequence Analysis
Test Code: 6108

This test can only be performed if there is a previously identified familial mutation.
MECP2 Sequence Analysis
Test Code: 6110

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.


MECP2 Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 6068
Test Includes: Exons 1 thru 4 are sequenced.

Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#6108). Please see detailed requirements under this test code.

Approximately 85% of females with Rett syndrome have MECP2 mutations detected by sequence analysis (#6068) and approximately 10% have copy number mutations (#6069). Testing may be ordered sequentially (1. #6068; 2. #6069) or concurrently, MECP2 Comprehensive - Sequence and Deletion/Duplication Analysis (#6736).

Previously, testing laboratories had performed sequence analysis of the MECP2 coding region which was thought to consist of exons 2 through 4. Recently, rare mutations in MECP2 exon 1 have been reported in a few Rett patients. For patients who had previously tested negative by sequence analysis of exons 2 through 4, targeted sequencing analysis of MECP2 exon 1 can be requested through our laboratory (#6340).
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: MECP2
Protein Name: Methyl-CpG-binding protein 2
Test Type: Sequence 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: 21 days
Billing Information
List Price: $1,300.00 *Institutional discounts may apply, please call.
CPT Codes: 81302x1


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