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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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Incontinentia Pigmenti tests available.

Bloch-Sulzberger Syndrome | IP

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Common Deletion Analysis Incontinentia Pigmenti Common Deletion Analysis
Test Code: 6036
Incontinentia Pigmenti Common Deletion Analysis
Test Code: 6036
Incontinentia Pigmenti Common Deletion Analysis
Test Code: 6100

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 Analysis IKBKG Sequence Analysis
Test Code: 7100
IKBKG Sequence Analysis
Test Code: 7101

This test can only be performed if there is a previously identified familial mutation.
IKBKG Sequence Analysis
Test Code: 7102

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.


Incontinentia Pigmenti Common Deletion Analysis
Test Information: Confirmation of Clinical Diagnosis, Confirmation of Clinical Diagnosis - Known Familial Mutation(s), Carrier Testing - Known Familial Mutation(s)
Test Details
Test Code: 6036
Special Notes: Approximately 80% of IP patients were shown to carry a common deletion mutation that removes exons 4 through 10 of the IKBKG (NEMO) gene. Southern analysis for the common IKBKG (NEMO) gene deletion is performed with an exon 2 probe and a genomic HindIII restriction digest. This assay detects an 8kb deletion junction fragment and a normal 12kb band. This diagnostic strategy was designed to avoid potential complications due to the presence of a IKBKG (NEMO) pseudogene downstream. Unusual phenotypes (such as IP in a male) should be discussed in advance.
Technical Information
Methodology: Southern blot
Gene Name: IKBKG (NEMO)
Protein Name: NF-kappa-B essential modulator
Test Type: Common Deletion 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: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x1


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