Clinical and research tests for C0342549 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
LHCGR - 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
Leydig cell adenoma, somatic, with precocious puberty, 176410 (LHCGR 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
Precocious puberty, male, 176410, Autosomal dominant (Familial male-limited precocious puberty) (LHCGR 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
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
LHCGR-related Disorders via the LHCGR 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
Infertility Genologica Medica Spain	25	11	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
Genital Abnormalities / Sex Development Disorders Panel Genologica Medica Spain	95	49	C Sequence analysis of the entire coding region
Leydig Cell Hypoplasia (LHCGR Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Male Infertility NGS Panel Fulgent Genetics United States	79	45	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Male-Limited Precocious Puberty (LHCGR Single Gene Test) Fulgent Genetics United States	2	1	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
FAMILIAL GONADOTROPIN-INDEPENDENT MALE-LIMITED PRECOCIOUS PUBERTY (TESTOTOXICOSIS) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
STON1-GTF2A1L Single Gene Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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