TESTING FOR IP IS AVAILABLE AND IS IMPERATIVE TO AN ACCURATE DIAGNOSIS
A GENETIC COUNSELOR IS HIGHLY SUGGESTED FOR EVERY FAMILY
National Society of Genetic Counselors
Incontinentia Pigmenti tests ARE available at BCM in the U.S.A and other Laboratories World Wide
ALL BCM Information Below Copied from OMIM Gene Reviews
Baylor College of Medicine DNA Laboratory
Baylor Testing Info Quick Link -
Bloch-Sulzberger Syndrome | IP (2)
Common Deletion Analysis Testing
* Diagnostic Testing - CURRENT
* Familial Mutation/Variant Analysis - CURRENT
* Prenatal Diagnosis - AVAILABLE
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)
Sequence Analysis Testing
* Diagnostic Testing - AVAILABLE
* Familial Mutation/Variant Analysis - AVAILABLE
* Prenatal Diagnosis - AVAILABLE
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
Test Code: 6036
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Turn Around Time: 21 days
Sample & Shipping Information Test Requisition: Molecular Diagnostics
SEE SITE FOR PRICING and MORE INFORMATION
OMIM GeneReviews
For Additional Testing Laboratories Please Contact Your Genetic Counselor
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