Clinical and research tests for 190160 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
THRB Gene Thyroid hormone resistance NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
THRB - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Thyroid hormone resistance, 188570, Autosomal dominant; GRTH (Generalized resistance to thyroid hormone) (THRB 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
Thyroid hormone resistance, selective pituitary, 145650, Autosomal dominant; PRTH (Selective pituitary resistance to thyroid hormone) (THRB 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
Thyroid hormone resistance, autosomal recessive, 274300, Autosomal recessive; GRTH (Generalized resistance to thyroid hormone) (THRB 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Thyroid Hormone Resistance via the THRB Gene PreventionGenetics, part of Exact Sciences United States	3	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
Resistance to Thyroid Hormone (RTH) Gene Sequencing Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	1	C Sequence analysis of the entire coding region
Congenital Hypothyroidism Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	18	15	C Sequence analysis of the entire coding region
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1307	C Sequence analysis of the entire coding region
Hyperthyroidism (WES based NGS panel of 7 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	7	C Sequence analysis of the entire coding region
Male Infertility Panel CGC Genetics Unilabs Portugal	1	165	C Sequence analysis of the entire coding region
Female Infertility Panel CGC Genetics Unilabs Portugal	1	129	C Sequence analysis of the entire coding region
Thyroid hormone resistance (sequence analysis of THRB gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Thyroid hormone resistance (deletion/duplication analysis of THRB gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication 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.