Clinical and research tests for C4225178 - 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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Pyruvate Metabolism and Related Disorders Panel Invitae United States	40	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Iron Related Disorders Panel Invitae United States	39	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	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
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	292	253	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	267	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spasticity, childhood-onset, with hyperglycinemia, 616859, Autosomal recessive; SPAHGC (Spasticity-ataxia-gait anomalies syndrome) (GLRX5 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
Invitae Elevated Glycine Panel (including Glycine Encephalopathy) Invitae United States	13	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	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
Nonketotic hyperglycinemia / glycine encephalopathy panel. 9-gene NGS panel. Genologica Medica Spain	8	9	C Sequence analysis of the entire coding region
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
Glutaredoxin 5 deficiency (GLRX5) Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD Netherlands	1	1	C Sequence analysis of the entire coding region
Mitochondrial Diseases (mtDNA and 217 nuclear genes) Asper Biogene Asper Biogene LLC Estonia	89	210	C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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