Clinical and research tests for 218700 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700, Autosomal dominant; CHNG2 (Athyreosis) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700, Autosomal dominant; CHNG2 (Athyreosis) (PAX8 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
PAX8 - 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
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 Dysgenesis) via the PAX8 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, 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
Hypothyroidism Panel Genetic Services Laboratory University of Chicago United States	11	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing PAX8 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
PAX8 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
PAX8 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Nongoitrous Hypothyroidism 2 Molecular Diagnostics Lab Nemours Children's Health, Delaware United States	1	1	C Sequence analysis of the entire coding region
Retina/ Photoreceptor Dystrophy Panel Revvity Omics Revvity United States	1	1	C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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