Clinical and research tests for 601749 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HHT and Vascular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	7	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glomuvenous malformations and Cutaneomucosal venous malformations Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glomuvenous malformations and Cutaneomucosal venous malformations Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Glomuvenous malformations, 138000, Autosomal dominant; GVM (Glomuvenous malformation) (GLMN 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
Glomuvenous malformations Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Glomuvenous malformations Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glomuvenous malformations NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Vascular malformations Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Vascular malformations NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Vascular malformations Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glomuvenous malformations and Cutaneomucosal venous malformations Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Glomuvenous malformations and Cutaneomucosal venous malformations Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region 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
Vascular Malformations Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	24	28	D Deletion/duplication analysis 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
Glomuvenous malformation (sequence analysis on GLMN gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Melanoma and Other Skin Cancers Panel Mendelics Brazil	1	44	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.