Clinical and research tests for C1860042 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
POR - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Disorders of Sex Development Panel Invitae United States	88	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Sterol Disorders Panel PreventionGenetics, part of Exact Sciences United States	18	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency) (POR 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
CraniofacialZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	45	C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Adrenal Hyperplasia (CAH) Panel PreventionGenetics, part of Exact Sciences United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ambiguous Genitalia Panel PreventionGenetics, part of Exact Sciences United States	128	85	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
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
P450 Oxidoreductase Deficiency via the POR 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
POR Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain	113	37	C Sequence analysis of the entire coding region
Congenital adrenal hyperplasia panel. 9-gene NGS panel. Genologica Medica Spain	14	9	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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