Clinical and research tests for C5436061 - Genetic Testing Registry (GTR)

Results: 1 to 20 of 20

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
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 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 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
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
Genital Abnormalities / Sex Development Disorders Panel Genologica Medica Spain	95	49	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
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
Infertility NGS Panel Fulgent Genetics United States	92	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Female Infertility NGS Panel Fulgent Genetics United States	76	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2 Reference Laboratory Genetics Spain	7	4	C Sequence analysis of the entire coding region
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Panel Genetic Services Laboratory University of Chicago United States	27	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
46,XY complete gonadal dysgenesis Bioarray Spain	1	1	C Sequence analysis of the entire coding region
DHH Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
46XY partial gonadal dysgenesis, with minifascicular neuropathy MedGene Slovakia	1	1	C Sequence analysis of the entire coding region
46XY partial gonadal dysgenesis, with minifascicular neuropathy Praxis fuer Humangenetik Wien Austria	1	1	C Sequence analysis of the entire coding region

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Results: 1 to 20 of 20

Results: 1 to 20 of 20