Clinical and research tests for C0021171 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis 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
Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States	79	61	C Sequence analysis of the entire coding region
IKBKG - Sanger sequencing Centogene AG - the Rare Disease Company Germany	4	1	C Sequence analysis of the entire coding region
Mendelian Susceptibility to Mycobacterial Disease Panel PreventionGenetics, part of Exact Sciences United States	29	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Incontinentia pigmenti, 308300, X-linked dominant; IP (Incontinentia pigmenti) (IKBKG 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
Incontinentia pigmenti, 308300, X-linked dominant; IP (Incontinentia pigmenti) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Incontinentia Pigmenti Common Deletion Analysis (Prenatal Diagnosis) Baylor Genetics United States	4	1	T Targeted variant analysis
Incontinentia Pigmenti Common Deletion Analysis Baylor Genetics United States	4	1	T Targeted variant analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
IKBKG Testing Molecular Vision Laboratory United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IKBKG Sequence Analysis Baylor Genetics United States	1	1	E Sequence analysis of select exons
IKBKG Sequence Analysis (Targeted Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
IKBKG Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Incontinentia Pigmenti: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
INCONTINENTIA PIGMENTI Laboratorio de Genetica Clinica SL Spain	1	1	X Mutation scanning of select exons C Sequence analysis of the entire coding region
Syndromes with immunodeficiency Panel CeGaT GmbH Germany	33	38	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.