Genetic Test Details

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
Category
Skeletal\Growth
Sub Category
Simpson-Golabi-Behmel Syndrome
Gene/Platform/Region List
GPC3, GPC4
Test type
Gene Panel
Samples Accepted
Blood , DNA , DNA (Not Accepted for MLPA)
Indications
Diagnosis , Carrier Cascade Testing , Prenatal
Test Methodology
CNV , Sequencing
Methodology Notes
Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA of GPC3 and GPC4
Disease/Condition
Simpson-Golabi-Behmel Syndrome

Last Updated: June 23, 2025