Clinical and research tests for 615026 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 16 of 16

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Riboflavin deficiency, 615026, Autosomal dominant; RBFVD (Maternal riboflavin deficiency) (SLC52A1 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
Riboflavin deficiency, 615026, Autosomal dominant; RBFVD (Maternal riboflavin deficiency) (SLC52A1 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
SLC52A1 - 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Hypoglycemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypoglycemia Panel PreventionGenetics, part of Exact Sciences United States	217	171	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	163	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	239	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Fatty Acid Oxidation Defects Panel Labcorp Genetics (formerly Invitae) LabCorp United States	28	25	D Deletion/duplication analysis
Invitae Organic Acidemias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C4 and C5 (Multiple Acyl-CoA Dehydrogenase deficiency) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fatty Acid Oxidation Disorders Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	23	25	C Sequence analysis of the entire coding region
SLC52A1 Single Gene Fulgent Genetics United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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