Clinical and research tests for STT3B - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
STT3B - 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Disorders of Glycosylation Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital disorder of glycosylation, type Ix, 615597, Autosomal recessive; CDG1X (STT3B-CDG) (STT3B 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
Congenital disorder of glycosylation, type Ix, 615597, Autosomal recessive; CDG1X (STT3B-CDG) (STT3B 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
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 Labcorp Genetics (formerly Invitae) LabCorp United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Congenital disorders of glycosylation (WES based NGS panel of 39 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	39	C Sequence analysis of the entire coding region
Congenital disorder of glycosylation type Ix (sequence analysis of STT3B gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
CONGENITAL GLYCOSYLATION DISORDERS SYNDROME PANEL Laboratorio de Genetica Clinica SL Spain	1	90	E Sequence analysis of select exons
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	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
Autism Spectrum Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey	1	160	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region

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