Clinical and research tests for C3808991 - Genetic Testing Registry (GTR)

Results: 1 to 20 of 20

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	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 Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital disorder of deglycosylation, 615273, Autosomal recessive; CDDG (Alacrimia-choreoathetosis-liver dysfunction syndrome) (NGLY1 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
Congenital disorder of deglycosylation, 615273, Autosomal recessive; CDDG (Alacrimia-choreoathetosis-liver dysfunction syndrome) (NGLY1 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
NGLY1 - Congenital disorder of glycosylation type IV Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Congenital Disorders of Glycosylation (CDG) Panel PreventionGenetics, part of Exact Sciences United States	56	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Disorders of Glycosylation Panel Invitae United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early Infantile Epileptic Encephalopathy Panel PreventionGenetics, part of Exact Sciences United States	144	124	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
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
GeneSeq PLUS, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Panel of congenital disorders of glycosylation. NGS panel of 47 genes. Genologica Medica Spain	55	47	C Sequence analysis of the entire coding region
Comprehensive Metabolism Panel Blueprint Genetics Finland	14	434	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Rett and Angelman Syndromes and Related Disorders Panel Invitae United States	28	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Asper Biogene Asper Biogene LLC Estonia	210	204	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Disorders of Glycosylation (CDG) Panel CeGaT GmbH Germany	20	34	C Sequence analysis of the entire coding region
Congenital Disorders of Glycosylation (CDG) Panel CeGaT GmbH Germany	20	34	C Sequence analysis of the entire coding region

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Results: 1 to 20 of 20

Results: 1 to 20 of 20