Clinical and research tests for STAT1 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 71

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Immunodeficiency 31C, autosomal dominant, 614162, Autosomal dominant; IMD31C (Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome) (STAT1 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
Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796, Autosomal recessive; IMD31B (Susceptibility to viral and mycobacterial infections) (STAT1 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
Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892, Autosomal dominant; IMD31A (Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency) (STAT1 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
Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892, Autosomal dominant; IMD31A (Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency) (STAT1 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 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 Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States	223	154	D Deletion/duplication analysis
Invitae Monogenic Inflammatory Bowel Disease Panel Invitae United States	108	67	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Comprehensive Neonatal Diabetes Mutation Analysis Genetic Services Laboratory University of Chicago United States	5	33	D Deletion/duplication analysis M Methylation analysis C Sequence analysis of the entire coding region
Monogenic Diabetes Panel Genetic Services Laboratory University of Chicago United States	14	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Immunodeficiency Panel Baylor Genetics United States	1	463	C Sequence analysis of the entire coding region
Infantile enterocolitis and inflammatory bowel disease monogenic (NGS panel WES based of 65 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	65	C Sequence analysis of the entire coding region
Diabetes Panel CGC Genetics Unilabs Portugal	1	76	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
Immunodeficiency 31A/31B/31C (sequence analysis of STAT1 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
Primary Immunodeficiencies Panel Mendelics Brazil	1	59	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
Treatable Disorders Panel Mendelics Brazil	1	369	C Sequence analysis of the entire coding region
STAT1. Complete sequencing by NGS Laboratorio de Genetica Clinica SL Spain	1	1	E Sequence analysis of select exons

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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.