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

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Results: 21 to 40 of 96

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GTC-Hematology Profile Genomic Testing Cooperative, LCA United States	1	247	C Sequence analysis of the entire coding region
Capillary malformations, congenital, 1, somatic, mosaic, 163000; CMC (Familial multiple nevi flammei) (GNAQ gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Sturge-Weber syndrome, somatic, mosaic, 185300; SWS (Sturge-Weber syndrome) (GNAQ gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Comprehensive HemeComplete Profile with IGH Somatic Hypermutation PathGroup United States	13	161	E Sequence analysis of select exons T Targeted variant analysis
HemeComplete NextGen Sequencing Assay with Calreticulin Exon 9 Mutation, FLT3 ITD and TKD Analysis and T-Cell Clonality Analysis PathGroup United States	23	160	T Targeted variant analysis
HemeComplete NextGen Sequencing Assay with Calreticulin Exon 9 Mutation, FLT3 ITD and TKD Analysis and JAK2 V617F Quant PathGroup United States	18	160	T Targeted variant analysis
Comprehensive HemeComplete Profile + CALR PCR + FLT3 PCR + BCR/ABL1 IS PathGroup United States	17	160	T Targeted variant analysis
Comprehensive HemeComplete Profile + CALR PCR + FLT3 PCR + BCR/ABL1 PathGroup United States	17	160	T Targeted variant analysis
Comprehensive HemeComplete Profile + CALR PCR + FLT3 PCR PathGroup United States	16	160	T Targeted variant analysis
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Tempus xF Tempus Labs, Inc. United States	1	105	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
PrimBio Cancer HotSpot Panel PrimBio Research Institute United States	60	50	T Targeted variant analysis
NeoTYPE® Discovery Profile for Solid Tumors NeoGenomics Laboratories NeoGenomics Laboratories, Inc. United States	1	315	I Immunohistochemistry F Fluorescence in situ hybridization (FISH) C Sequence analysis of the entire coding region
ProvSeq 523 Providence St. Joseph Health Molecular Genomics Laboratory Providence St Joseph Health United States	1	523	C Sequence analysis of the entire coding region
Segmental Overgrowth Disorders - NGS panel Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	4	13	C Sequence analysis of the entire coding region
Comprehensive Panel for Individualized Cancer Threatment GeneKor MSA Greece	16	52	D Deletion/duplication analysis X Mutation scanning of select exons E Sequence analysis of select exons T Targeted variant analysis
Somatic Overgrowth and Vascular Malformations Gene Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	9	34	X Mutation scanning of select exons C Sequence analysis of the entire coding region
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Vascular Anomalies Panel with interpretation Clinical Genomics Laboratory Washington University in St. Louis United States	1	65	C Sequence analysis of the entire coding region
GeneVa Laboratory for Molecular Pediatric Pathology Boston Children's Hospital United States	1	35	T Targeted variant analysis

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Results: 21 to 40 of 96

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.

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Results: 21 to 40 of 96

Results: 21 to 40 of 96