Clinical and research tests for 1109 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
AKR1C4 Gene 46,XY sex reversal type 8, modifier of 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
AKR1C4 - 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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cholestasis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	210	134	D Deletion/duplication analysis
46,XY sex reversal 8, modifier of, 614279, Autosomal recessive (46,XY disorder of sex development due to testicular 17,20-desmolase deficiency) (AKR1C4 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
46,XY sex reversal 8, modifier of, 614279, Autosomal recessive (46,XY disorder of sex development due to testicular 17,20-desmolase deficiency) (AKR1C4 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
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
Deletion-Duplication analysis of Multiple Genes GeneDx United States	1	20	D Deletion/duplication analysis
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
Custom XomeDx Slice – Differences of Sex Development (Proband Only) GeneDx United States	21	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
46,XY sex reversal: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	11	10	C Sequence analysis of the entire coding region
46,XY Sex Reversal NGS Panel Fulgent Genetics United States	16	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AKR1C4 Single Gene Fulgent Genetics United States	1	1	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.