Clinical and research tests for C0543514 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
PHKB - 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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hypoglycemia Panel Invitae United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750, Autosomal recessive; GSD9B (Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency) (PHKB 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
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750, Autosomal recessive; GSD9B (Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency) (PHKB 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
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PHKB - Glycogen storage disease type Ixb Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Invitae Comprehensive Glycogen Storage Disease Panel Invitae United States	37	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Glycogen Storage Disease and Disorders of Glucose Metabolism Panel PreventionGenetics, part of Exact Sciences United States	33	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PHKB Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glycogen Storage Disease Type IX via the PHKB Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Metabolic liver failure panel. 16-gene NGS panel. Genologica Medica Spain	19	16	C Sequence analysis of the entire coding region
Glycogen storage disorder panel. 29-gene NGS panel. Genologica Medica Spain	33	29	C Sequence analysis of the entire coding region
Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes. Genologica Medica Spain	73	50	C Sequence analysis of the entire coding region
Glycogenosis (inherited metabolic disorders). NGS panel of 24 genes. Genologica Medica Spain	30	24	C Sequence analysis of the entire coding region

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