Clinical and research tests for ECE1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ECE1 Gene Hirschsprung disease NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
ECE1 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	123	129	E Sequence analysis of select exons
ECE1 - 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
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870, Autosomal dominant; HCAD (ECE1 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
Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870, Autosomal dominant; HCAD (ECE1 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
Hypertension, essential, susceptibility to, 145500, Multifactorial (ECE1 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
Hirschsprung Disease (Non-syndromic) Panel PreventionGenetics, part of Exact Sciences United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hirschsprung Disease, Cardiac Defects and Autonomic Dysfunction via the ECE1 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
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Hirschsprung disease, cardiac defects, and autonomic dysfunction (sequence analysis of ECE1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Hereditary Deafness Panel (Expanded) Mendelics Brazil	1	104	C Sequence analysis of the entire coding region
HIRSCHSPRUNG DISEASE EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	18	E Sequence analysis of select exons
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
Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	19	560	C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EpiXpanded Panel GeneDx United States	1	1501	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Non syndromic Hirschsprung Disease: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	10	C Sequence analysis of the entire coding region

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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.