Clinical and research tests for SOX18 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
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-renal defect syndrome, 137940, Autosomal dominant; HLTRS (Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome) (SOX18 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940, Autosomal dominant; HLTRS (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
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
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
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 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
Lymphedema hereditary (WES based NGS panel of 22 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	22	C Sequence analysis of the entire coding region
Nephrology Panel CGC Genetics Unilabs Portugal	1	334	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	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
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons 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

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