Clinical and research tests for C1291299 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TPO - 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
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 dyshormonogenesis 2A, 274500, Autosomal recessive; TDH2A (Familial thyroid dyshormonogenesis) (TPO 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 dyshormonogenesis 2A, 274500, Autosomal recessive; TDH2A (Familial thyroid dyshormonogenesis) (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
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TPO 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
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
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes Reference Laboratory Genetics Spain	24	19	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
Familial Thyroid Dyshormogenesis Type 2A, Deletions-Duplications (MLPA) TPO Gene Reference Laboratory Genetics Spain	1	1	D Deletion/duplication analysis
Familial Thyroid Dyshormonogenesis Type 2A , Sequencing TPO Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Familial thyroid dyshormonogenesis type 2A Bioarray 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.