Clinical and research tests for SLC12A5 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 52

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLC12A5 Gene Bartter syndrome 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
SLC12A5 - 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
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
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Epilepsy Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	1	166	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy exome Genetic Services Laboratory University of Chicago United States	47	125	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epileptic encephalopathy, early infantile, 34, 616645, Autosomal recessive; EIEE34 (Malignant migrating partial seizures of infancy) (SLC12A5 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
Epileptic encephalopathy, early infantile, 34, 616645, Autosomal recessive; EIEE34 (Malignant migrating partial seizures of infancy) (SLC12A5 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
Epilepsy, idiopathic generalized, susceptibility to, 14, 616685, Autosomal dominant (SLC12A5 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
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
CHILDHOOD EPILEPSY Amplexa Genetics Amplexa Genetics A/S Denmark	1	125	S Mutation scanning 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
Early Infantile Epileptic Encephalopathy Panel PreventionGenetics, part of Exact Sciences United States	144	124	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Early Infantile Epileptic Encephalopathy Panel Genetic Services Laboratory University of Chicago United States	47	125	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

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 52

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.