Clinical and research tests for C4310943 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLC6A9 - 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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glycine Encephalopathy Panel PreventionGenetics, part of Exact Sciences United States	11	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Glycine encephalopathy with normal serum glycine, 617301, Autosomal recessive (Atypical glycine encephalopathy) (SLC6A9 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
Glycine encephalopathy with normal serum glycine, 617301, Autosomal recessive (Atypical glycine encephalopathy) (SLC6A9 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
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States	202	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Elevated Glycine Panel (including Glycine Encephalopathy) Invitae United States	13	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neurotransmitter Disorders Panel Invitae United States	52	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Hyperekplexia Panel Invitae United States	23	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC6A9 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Nonketotic hyperglycinemia / glycine encephalopathy panel. 9-gene NGS panel. Genologica Medica Spain	8	9	C Sequence analysis of the entire coding region
GLYT1 Encephalopathy: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Glycine Encephalopathy: gene deletion/duplication CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	1	D Deletion/duplication analysis
Glycine Encephalopathy: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	3	C Sequence analysis of the entire coding region
Glycine transporter 1 deficiency (SLC6A9) Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD Netherlands	1	1	A Analyte C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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