Clinical and research tests for C1848805 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLC5A5 - 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Thyroid dyshormonogenesis 1, 274400, Autosomal recessive; TDH1 (Familial thyroid dyshormonogenesis) (SLC5A5 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 Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	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
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the SLC5A5/NIS 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 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 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
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
CONGENITAL HYPOTHYROIDISM Laboratorio de Genetica Clinica SL Spain	9	10	C Sequence analysis of the entire coding region
Single gene testing SLC5A5 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Male Factor Infertility Asper Biogene Asper Biogene LLC Estonia	99	90	C Sequence analysis of the entire coding region T Targeted variant analysis
SLC5A5 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability NGS Panel Fulgent Genetics United States	1058	554	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Thyroid Dyshomogenesis MedGene Slovakia	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.