Clinical and research tests for C1846632 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	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 Congenital Diarrhea Panel Invitae United States	121	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Thyroid dyshormonogenesis 6, 607200, Autosomal recessive; TDH6 (Familial thyroid dyshormonogenesis) (DUOX2 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 Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel PreventionGenetics, part of Exact Sciences United States	32	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypothyroidism and thyroid hormone resistance panel. NGS panel of 21 genes. Genologica Medica Spain	42	21	C Sequence analysis of the entire coding region
Female Infertility Asper Biogene Asper Biogene LLC Estonia	85	64	C Sequence analysis of the entire coding region
Hypothyroidism and Resistance to Thyroid Hormone NGS Panel Fulgent Genetics United States	41	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Thyroid Dyshormogenesis , Panel Massive Sequencing (NGS) 10 Genes Reference Laboratory Genetics Spain	14	10	C Sequence analysis of the entire coding region
Thyroid Dyshormonogenesis Asper Biogene Asper Biogene LLC Estonia	7	6	C Sequence analysis of the entire coding region
Hypothyroidism and Thyroid Hormone Resistance Asper Biogene Asper Biogene LLC Estonia	29	22	C Sequence analysis of the entire coding region
Familial Thyroid Dyshormogenesis Type 6 , Sequencing DUOX2 Gene Reference Laboratory Genetics Spain	1	1	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.