Clinical and research tests for 600478 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 43

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis 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
Clinically Recognized Syndromes Panel Mendelics Brazil	1	236	C Sequence analysis of the entire coding region
Immunodeficiencies and Immunologic Diseases Panel (Complete) Mendelics Brazil	1	397	C Sequence analysis of the entire coding region
CONGENITAL DIARRHEA SYNDROME PANEL Laboratorio de Genetica Clinica SL Spain	1	65	E Sequence analysis of select exons
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
Digestive Disease panel Genetic Services Laboratory University of Chicago United States	1	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Very Early Onset Inflammatory Bowel Disease (VEO-IBD) Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	1	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Diarrhea panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	20	20	C Sequence analysis of the entire coding region
Trichohepatoenteric syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	473	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TRICHO-HEPATO-ENTERIC SYNDROME/SYNDROMIC DIARRHEA Laboratorio de Genetica Clinica SL Spain	2	2	C Sequence analysis of the entire coding region
Congenital Diarrhea Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	36	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Diarrhea Panel Blueprint Genetics Finland	6	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 43

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.

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Results: 21 to 40 of 43

Results: 21 to 40 of 43