Clinical and research tests for 610224 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Diabetes insipidus, primary central (sequence analysis of AVP gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
SOHLH1 Gene Oogenesis dysfunction NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Premature Ovarian Failure/Ovarian Dysgenesis via the SOHLH1 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
Premature Ovarian Failure (POF) Panel PreventionGenetics, part of Exact Sciences United States	19	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics, part of Exact Sciences United States	223	238	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Male Infertility Panel PreventionGenetics, part of Exact Sciences United States	128	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Female Infertility Panel PreventionGenetics, part of Exact Sciences United States	96	105	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Premature ovarian failure (WES based NGS panel of 47 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	47	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
Male Infertility Panel Mendelics Brazil	1	37	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
Female Infertility panel Genetic Services Laboratory University of Chicago United States	10	93	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spermatogenic failure: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	39	38	C Sequence analysis of the entire coding region
Ovarian dysgenesis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	9	8	C Sequence analysis of the entire coding region
Infertility NGS Panel Fulgent Genetics United States	92	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Female Infertility NGS Panel Fulgent Genetics United States	76	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SOHLH1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Premature Ovarian Failure Panel Genetic Services Laboratory University of Chicago United States	10	26	D Deletion/duplication analysis 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

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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.