Clinical and research tests for 26957 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
AR Gene Sequencing GeneDx United States	1	1	C Sequence analysis of the entire coding region
BCOR Gene Sequencing & Del/Dup GeneDx United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
XomeDxXpress – Duo GeneDx United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
XomeDxXpress - Trio GeneDx United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Xpanded - Congenital Heart Defects Panel GeneDx United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mitochondrial Genome Sequencing & Deletion Test GeneDx United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
XomeDx - Duo GeneDx United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
XomeDx - Trio GeneDx United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ABCC6 Gene Sequencing and Del/Dup GeneDx United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
XomeDx® Subsequent Reanalysis GeneDx United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Ichthyosis Slice GeneDx United States	1	49	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single Gene Slice GeneDx United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GALT Gene Sequencing & Del/Dup GeneDx United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Prenatal Whole Genome Chromosomal Microarray GeneDx United States	1	1714	D Deletion/duplication analysis
GenomeSeqDx GeneDx United States	1	1	C Sequence analysis of the entire coding region
GALC Gene Sequencing & Del/Dup GeneDx United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Waardenburg Syndrome Panel GeneDx United States	1	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Prenatal 46,XY Disorders of Sex Development Panel GeneDx United States	1	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Alport Syndrome Panel GeneDx United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
XomeDx Fetal – Trio GeneDx United States	1	1	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.