Clinical and research tests for C1843004 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypotrichosis-lymphedema-telangiectasia syndrome, 607823, Autosomal recessive; HLTS (Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome) (SOX18 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
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States	148	73	D Deletion/duplication analysis
Lymphedema Panel PreventionGenetics, part of Exact Sciences United States	15	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lymphedema with Hypotrichosis and Telangiectasia via the SOX18 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 malformations panel. 14-gene NGS panel. Genologica Medica Spain	38	14	C Sequence analysis of the entire coding region
Lymphatic malformations and related disorders panel. NGS panel of 11 genes. Genologica Medica Spain	31	11	C Sequence analysis of the entire coding region
Lymphedema Sequencing Panel Seattle Children's Hospital Genetics Laboratories Seattle Children's United States	29	25	C Sequence analysis of the entire coding region
Vascular Anomalies (VANseq) Expanded Del/Dup Panel Seattle Children's Hospital Genetics Laboratories Seattle Children's United States	50	47	D Deletion/duplication analysis
Vascular Anomalies (VANseq) Expanded Sequencing Panel Seattle Children's Hospital Genetics Laboratories Seattle Children's United States	50	47	C Sequence analysis of the entire coding region
SOX18 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Lymphedema-Lethal Restrictive Dermopathy , Panel Massive Sequencing (NGS) 7 Genes Reference Laboratory Genetics Spain	8	7	C Sequence analysis of the entire coding region
Hypotrichosis-Lymphedema-Telangiectasia Syndrome , Sequencing SOX18 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Vascular Malformation NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	34	21	C Sequence analysis of the entire coding region
Vascular and lymphatic disorders Panel CeGaT GmbH Germany	17	18	C Sequence analysis of the entire coding region
Non-Immune Hydrops NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	86	87	C Sequence analysis of the entire coding region
SOX18 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Somatic Overgrowth Panel with interpretation Clinical Genomics Laboratory Washington University in St. Louis United States	82	114	C Sequence analysis of the entire coding region

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