Clinical and research tests for C3493776 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
TSHR - 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
Hypothyroidism, congenital, nongoitrous, 1, 275200, Autosomal recessive; CHNG1 (Hypothyroidism due to TSH receptor mutations) (TSHR 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
Hypothyroidism, congenital, nongoitrous, 1, 275200, Autosomal recessive; CHNG1 (Hypothyroidism due to TSH receptor mutations) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis 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
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 [Congenital, Nongoitrous] and Hyperthyroidism [Familial Gestational and Nonautoimmune] via the TSHR 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 Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	18	15	C Sequence analysis of the entire coding region
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, congenital, nongoitrous: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	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
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes Reference Laboratory Genetics Spain	24	19	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
Hypothyroidism and Thyroid Hormone Resistance Asper Biogene Asper Biogene LLC Estonia	29	22	C Sequence analysis of the entire coding region
CONGENITAL HYPOTHYROIDISM Laboratorio de Genetica Clinica SL Spain	9	10	C Sequence analysis of the entire coding region
Congenital Hypothyroidism , Sequencing TSHR Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Comprehensive Hereditary Cancer Panel Baylor Genetics United States	132	61	E Sequence analysis of select exons
Hereditary Endocrine Cancer Panel Baylor Genetics United States	51	15	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.