Clinical and research tests for C1291230 - Genetic Testing Registry (GTR) - NCBI

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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
HADH - 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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States	202	128	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 Hypoglycemia Panel Invitae United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hyperammonemia Panel PreventionGenetics, part of Exact Sciences United States	66	63	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypoglycemia Panel - Expanded PreventionGenetics, part of Exact Sciences United States	131	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
3-hydroxyacyl-CoA dehydrogenase deficiency, 231530, Autosomal recessive (Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency) (HADH 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
3-hydroxyacyl-CoA dehydrogenase deficiency, 231530, Autosomal recessive (Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency) (HADH 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 Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Disorders of Fatty Acid Oxidation (FAOD) Panel PreventionGenetics, part of Exact Sciences United States	32	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	106	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Metabolic Hypoglycemia Panel PreventionGenetics, part of Exact Sciences United States	38	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Fatty Acid Oxidation Defects Panel Invitae United States	28	25	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH 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

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