Clinical and research tests for 300247 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
BMP15 Gene Ovarian dysgenesis type 2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
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
BMP15 - 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
Premature ovarian failure 4, 300510 (46,XX gonadal dysgenesis) (BMP15 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
Ovarian dysgenesis 2, 300510; ODG2 (46,XX gonadal dysgenesis) (BMP15 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
Female infertility genetic testing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	6	K Karyotyping I Microsatellite instability testing (MSI) 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) Panel PreventionGenetics, part of Exact Sciences United States	149	158	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
Ovarian Dysgenesis via the BMP15 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 (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
Female Infertility Panel CGC Genetics Unilabs Portugal	1	129	C Sequence analysis of the entire coding region
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons
Panel of premature ovarian failure. NGS panel of 15 genes. Genologica Medica Spain	50	15	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
Female Infertility Asper Biogene Asper Biogene LLC Estonia	85	64	C Sequence analysis of the entire coding region
Microcephaly Xpanded Panel GeneDx United States	1	877	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Premature Ovarian Failure Panel GeneDx United States	6	22	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.