Clinical and research tests for 1893 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ECM1 Gene Urbach-Wiethe disease NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
ECM1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Urbach-Wiethe disease, 247100, Autosomal recessive (Lipoid proteinosis) (ECM1 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
Urbach-Wiethe disease, 247100, Autosomal recessive (Lipoid proteinosis) (ECM1 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
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
Prometheus® IBD sgi Diagnostic™ Prometheus Laboratory Inc United States	2	4	T Targeted variant analysis
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States	1	378	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Lysosomal and peroxisomal diseases (WES based NGS panel of 122 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	122	C Sequence analysis of the entire coding region
Urbach-Wiethe disease (sequence analysis of ECM1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Urbach-Wiethe disease (deletion/duplication analysis of ECM1 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons
EPILEPSY EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	696	E Sequence analysis of select exons
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain	409	283	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
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
Basal Ganglia Calcification Dystonia (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	5	63	C Sequence analysis of the entire coding region
Comprehensive Dementia (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	10	145	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

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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.