Clinical and research tests for NSD2 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Microdeletion / Microduplication Syndromes Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile	28	39	D Deletion/duplication analysis
Tempus xT Tempus AI United States	2	646	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
FoundationOne® Heme Foundation Medicine, Inc. United States	2	405	D Deletion/duplication analysis R RNA analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Endeavor PathGroup United States	73	505	C Sequence analysis of the entire coding region
GTC-Solid Tumor Profile Plus Fusion/Expression (DNA and RNA) Genomic Testing Cooperative, LCA United States	1	434	R RNA analysis C Sequence analysis of the entire coding region
GTC-Solid Tumor Profile Genomic Testing Cooperative, LCA United States	1	434	C Sequence analysis of the entire coding region
GTC-Hematology Profile Genomic Testing Cooperative, LCA United States	1	247	C Sequence analysis of the entire coding region
Comprehensive Hematologic Cancer Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	215	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Comprehensive Solid Tumor Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	315	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
MI Tumor Seek Hybrid Caris Life Sciences United States	1	591	R RNA analysis C Sequence analysis of the entire coding region
Paired Tumor/Normal - Hematologic Cancer Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Paired Tumor/Normal - Comprehensive Hematologic Cancer Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	215	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Congenital Hypotonia Xpanded Panel GeneDx United States	10	1423	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephaly Xpanded Panel GeneDx United States	1	877	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EpiXpanded Panel GeneDx United States	1	1501	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Leukodystrophy Xpanded Panel GeneDx United States	19	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Paired Tumor/Normal - Solid Tumor Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	239	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.