Clinical and research tests for 3557 - 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
IL1RN Gene Osteomyelitis, sterile multifocal, with periostitis and pustulosis NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
IL1RN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Neonatal Respiratory Distress Panel Invitae United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Gastric cancer risk after H. pylori infection, 137215, Autosomal dominant (Hereditary diffuse gastric cancer) (IL1RN 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
Interleukin 1 receptor antagonist deficiency, 612852, Autosomal recessive (Sterile multifocal osteomyelitis with periostitis and pustulosis) (IL1RN 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
Interleukin 1 receptor antagonist deficiency, 612852, Autosomal recessive (Sterile multifocal osteomyelitis with periostitis and pustulosis) (IL1RN 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
Microvascular complications of diabetes 4, 612628 (IL1RN 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
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States	223	154	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal	1	606	C Sequence analysis of the entire coding region
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency (sequence analysis of IL1RN gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Autoinflammatory Diseases Panel Mendelics Brazil	1	22	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
HEREDITARY CANCER EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	249	E Sequence analysis of select exons
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
AUTOINFLAMMATORY SYNDROMES EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	108	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.