Clinical and research tests for C1857569 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
AvaGen Test for Keratoconus Risk Factors and Corneal Dystrophies Avellino Lab USA, Inc. United States	17	1	E Sequence analysis of select exons
SLC4A11 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Corneal Dystrophies Panel Invitae United States	65	33	D Deletion/duplication analysis
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Corneal endothelial dystrophy, autosomal recessive, 217700, Autosomal recessive; CHED (Congenital hereditary endothelial dystrophy type II) (SLC4A11 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 Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Corneal Dystrophies Panel PreventionGenetics, part of Exact Sciences United States	40	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Hereditary Endothelial Dystrophy Type 2 (CHED2) and Harboyan Syndrome via the SLC4A11 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Corneal dystrophy panel. NGS panel of 27 genes. Genologica Medica Spain	44	27	C Sequence analysis of the entire coding region
Corneal endothelial dystrophy: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	1	C Sequence analysis of the entire coding region
SLC4A11 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Corneal Dystrophy NGS Panel Fulgent Genetics United States	47	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	636	298	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	661	306	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States	690	326	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes Reference Laboratory Genetics Spain	27	18	C Sequence analysis of the entire coding region
Congenital Hereditary Endothelial Dystrophy Type 2, Sequencing SLC4A11 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region

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