Clinical and research tests for C1837008 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Infertility Panel Centogene AG - the Rare Disease Company Germany	243	238	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
FOXL2 - Sanger sequencing Centogene AG - the Rare Disease Company Germany	2	1	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
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Premature ovarian failure 3, 608996; POF3 (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Premature ovarian failure 3, 608996; POF3 (FOXL2 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
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
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
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Invitae United States	130	81	D Deletion/duplication analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Panel of premature ovarian failure. NGS panel of 15 genes. Genologica Medica Spain	50	15	C Sequence analysis of the entire coding region
FOXL2 Mutation Duzen Laboratories Duzen BBAGUAS Turkey	3	1	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
Premature ovarian failure: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	17	15	I Microsatellite instability testing (MSI) 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
Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel Fulgent Genetics United States	244	78	D Deletion/duplication analysis 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.