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

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Results: 21 to 40 of 95

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Glutathione synthetase deficiency, 266130, Autosomal recessive; GSSD (Glutathione synthetase deficiency) (GSS 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
Hereditary Hemolytic Anemia Panel PreventionGenetics, part of Exact Sciences United States	44	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
GSS gene sequencing Inherited Metabolic Disease group University of Cape Town and National Health Laboratory Services South Africa	1	1	C Sequence analysis of the entire coding region
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Organic Acidemias Panel Invitae United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glutathione Synthetase Deficiency via the GSS 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
Hereditary Ataxia Panel CGC Genetics Unilabs Portugal	1	242	C Sequence analysis of the entire coding region
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Epilepsy Panel CGC Genetics Unilabs Portugal	1	832	C Sequence analysis of the entire coding region
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1293	C Sequence analysis of the entire coding region
Epileptic encephalopathy (WES based NGS panel of 137 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	137	C Sequence analysis of the entire coding region
Hemolytic anemia (WES based NGS panel of 33 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	33	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.

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Results: 21 to 40 of 95

Results: 21 to 40 of 95