Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing, GPC3 and GPC4 Deletion/Duplication Analysis

Test Information

Title
Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing, GPC3 and GPC4 Deletion/Duplication Analysis
Lab
Category
Skeletal growth
Test Name (CMS Title)
Simpson-Golabi-Behmel Syndrome
Gene/Platform/Region List
GPC3, GPC4
Test type
Samples Accepted
Blood, DNA, DNA (Not Accepted for MLPA)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA of GPC3 and GPC4
Disease/Condition
Simpson-Golabi-Behmel Syndrome

Last Updated: November 14, 2025

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