Clinical and research tests for 9427 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Distal Arthrogryposis Panel Genetic Services Laboratory University of Chicago United States	12	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ECEL1 Gene Arthrogryposis, distal, type 5D NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital contracture syndrome extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Distal arthrogryposes Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contracture syndrome extended NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	31	C Sequence analysis of the entire coding region T Targeted variant analysis
Distal arthrogryposes NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contracture syndrome extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal arthrogryposes Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis, distal, type 5D, 615065, Autosomal recessive; DA5D (Distal arthrogryposis type 5D) (ECEL1 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
Arthrogryposis, distal, type 5D, 615065, Autosomal recessive; DA5D (Distal arthrogryposis type 5D) (ECEL1 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
Distal arthrogryposes Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal arthrogryposes Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Distal arthrogryposes NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contracture syndrome extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital contracture syndrome extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contracture syndrome extended NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	31	C Sequence analysis of the entire coding region T Targeted variant analysis
Strabismus Syndrome or Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Panel PreventionGenetics, part of Exact Sciences United States	14	14	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.