Clinical and research tests for 2492 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
FSHR Gene Ovarian dysgenesis type 1 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
FSHR - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ovarian response to FSH stimulation, 276400, Autosomal recessive (FSHR 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 hyperstimulation syndrome, 608115, Autosomal dominant; OHSS (Ovarian hyperstimulation syndrome) (FSHR 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 1, 233300, Autosomal recessive; ODG1 (46,XX gonadal dysgenesis) (46,XX gonadal dysgenesis) (FSHR 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
Male infertility genetic testing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	5	K Karyotyping 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) 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 and Ovarian Hyperstimulation Syndrome via the FSHR Gene PreventionGenetics, part of Exact Sciences United States	3	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
46,XX gonadal dysgenesis (sequence analysis of FSHR gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Ovarian dysgenesis 1 Ovarian hyperstimulation syndrome (deletion/duplication analysis on FSHR gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons
Infertility Genologica Medica Spain	25	11	C Sequence analysis of the entire coding region
Panel of premature ovarian failure. NGS panel of 15 genes. Genologica Medica Spain	50	15	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.