Clinical and research tests for 50846 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
DHH Gene 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Distal Weakness Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Peripheral Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Motor and Sensory Neuropathy Panel Mayo Clinic Laboratories Mayo Clinic United States	2	87	D Deletion/duplication analysis 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
DHH - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Disorders of Sex Development Panel Invitae United States	88	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
46,XY sex reversal 7, 233420, Autosomal recessive; SRXY7 (46,XY complete gonadal dysgenesis) (DHH 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 partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome) (DHH 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 7, 233420, Autosomal recessive; SRXY7 (46,XY complete gonadal dysgenesis) (DHH 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
46,XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome) (DHH 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
qGenEx Sex development disorders Quantitative Genomic Medicine Laboratories, SL Spain	45	48	C Sequence analysis of the entire coding region
DHH-related Differences of Sex Development via the DHH Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Diseases of sexual development (WES based NGS panel of 46 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	46	C Sequence analysis of the entire coding region

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