Clinical and research tests for 604900 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CHRNA4 Gene Epilepsy, nocturnal frontal lobe type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Congenital Diarrhea Panel Labcorp Genetics (formerly Invitae) LabCorp United States	121	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diarrhea 7, 615863, Autosomal recessive; DIAR7 (Congenital chronic diarrhea with protein-losing enteropathy) (DGAT1 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
Diarrhea 7, 615863, Autosomal recessive; DIAR7 (Congenital chronic diarrhea with protein-losing enteropathy) (DGAT1 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 Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis 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
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	552	424	D Deletion/duplication analysis
Primary Immunodeficiency Panel Baylor Genetics United States	1	463	C Sequence analysis of the entire coding region
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Congenital diarrhea type 7 (sequence analysis of DGAT1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Neonatal Baby Cheek Screening Test Mendelics Brazil	1	342	C Sequence analysis of the entire coding region
Treatable Disorders Panel Mendelics Brazil	1	369	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
Congenital Hypotonia Xpanded Panel GeneDx United States	10	1423	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

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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.