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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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Smith-Magenis Syndrome tests available.

del(17)(p11.2)

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Sequence Analysis RAI1 Sequence Analysis
Test Code: 6760

Approximately ~90% of individuals with Smith-Magenis syndrome have a deletion detected by FISH (#8478) and approximately 5-10% have mutations detected by Sequence Analysis (#6760). Testing may be ordered sequentially (1. #8478; 2. #6760) or concurrently.
RAI1 Sequence Analysis
Test Code: 6761

This test can only be performed if there is a previously identified familial mutation.
RAI1 Sequence Analysis
Test Code: 6762

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.