Clinical and research tests for PCK1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency, cytosolic NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
PCK1 - 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 Pyruvate Metabolism and Related Disorders Panel Invitae United States	40	38	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
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
Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency, 261680, Autosomal recessive (Phosphoenolpyruvate carboxykinase deficiency) (PCK1 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
Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency, 261680, Autosomal recessive (Phosphoenolpyruvate carboxykinase deficiency) (PCK1 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
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
Invitae Organic Acidemias Panel Invitae United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via the PCK1 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
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
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Hypoglycemia (WES based NGS panel of 62 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	62	C Sequence analysis of the entire coding region
Neonatal Baby Cheek Screening Test Mendelics Brazil	1	342	C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.