Clinical and research tests for 79048 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SECISBP2 Gene Thyroid hormone metabolism abnormal NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
SECISBP2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis 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
Thyroid hormone metabolism, abnormal, 609698 (Short stature-delayed bone age due to thyroid hormone metabolism deficiency) (SECISBP2 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
SECISBP2-Related Disorders via the SECISBP2 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
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
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 metabolism, abnormal (sequence analysis of SECISBP2 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
Hypothyroidism and thyroid hormone resistance panel. NGS panel of 21 genes. Genologica Medica Spain	42	21	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Hypothyroidism - Resistance to TH Genetics Laboratory University of Oklahoma Health Sciences Center United States	1	19	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
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States	1	1722	C Sequence analysis of the entire coding region
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes Reference Laboratory Genetics Spain	24	19	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.