Clinical and research tests for 54507 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ADAMTSL4 Gene Ectopia lentis et pupillae NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
ADAMTSL4 Gene Ectopia lentis, isolated, autosomal recessive NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
ADAMTSL4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectopia lentis NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Ectopia lentis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectopia lentis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectopia lentis et pupillae, 225200, Autosomal recessive (Isolated ectopia lentis) (ADAMTSL4 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
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectopia lentis, isolated, autosomal recessive NGS 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
Ectopia lentis, isolated, autosomal recessive 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
Ectopia lentis, isolated, autosomal recessive 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 T Targeted variant analysis
Ectopia lentis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectopia lentis NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Ectopia lentis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.