Clinical and research tests for C3281084 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
DDOST - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	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 Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
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 disorder of glycosylation, type Ir, 614507, Autosomal recessive; CDG1R (DDOST-CDG) (DDOST 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 Ir, 614507, Autosomal recessive; CDG1R (DDOST-CDG) (DDOST 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 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
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
DDOST Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
DDOST Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
DDOST Sequence Analysis (Prenatal Sequence Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Congenital Disorders of Glycosylation Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	51	41	C Sequence analysis of the entire coding region
Congenital Disorders of Glycolysation Asper Biogene Asper Biogene LLC Estonia	53	49	C Sequence analysis of the entire coding region
Congenital disorders of glycosylation, type I: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	26	26	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypomyelinating Leukodystrophy NGS Panel Fulgent Genetics United States	225	62	D Deletion/duplication analysis 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.