Clinical and research tests for 602445 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Comprehensive Epilepsy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	318	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
SERPINI1 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Encephalopathy, familial, with neuroserpin inclusion bodies, 604218, Autosomal dominant; FENIB (Familial encephalopathy with neuroserpin inclusion bodies) (SERPINI1 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
Encephalopathy, familial, with neuroserpin inclusion bodies, 604218, Autosomal dominant; FENIB (Familial encephalopathy with neuroserpin inclusion bodies) (SERPINI1 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
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
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Invitae Epilepsy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Baylor Genetics United States	1	397	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
Epilepsy panel_v.2.0 CGC Genetics Unilabs Portugal	1	759	C Sequence analysis of the entire coding region
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	234	240	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Encephalopathy with neuroserpin inclusion bodies (sequence analysis of SERPINI1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	139	E Sequence analysis of select exons
EPILEPSY EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	696	E Sequence analysis of select exons
DEMENTIA AND ALZHEIMER EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	68	E Sequence analysis of select exons
ALZHEIMER AND DEMENTIA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	68	E Sequence analysis of select exons

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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.