Clinical and research tests for 1583 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
Congenital adrenal hyperplasia Panel NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CYP11A1 Gene Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States	1	335	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis 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
CYP11A1 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Adrenal Hyperplasia (CAH) Panel Centogene AG - the Rare Disease Company Germany	12	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Disorders of Sex Development Panel Labcorp Genetics (formerly Invitae) LabCorp United States	88	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete, 613743 (46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome) (CYP11A1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete, 613743 (46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome) (CYP11A1 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
Invitae Broad Carrier Screen without X-linked Disorders Labcorp Genetics (formerly Invitae) LabCorp United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp 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
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
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

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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.