Clinical and research tests for C0266432 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 hypoplasia with hypergonadotropic hypogonadism, 238320, Autosomal recessive (Leydig cell hypoplasia) (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
Luteinizing hormone resistance, female, 238320, Autosomal recessive (Leydig cell hypoplasia) (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
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
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
Leydig Cell Hypoplasia , Sequencing Exon 11 LHCGR Gene Reference Laboratory Genetics Spain	1	1	E Sequence analysis of select exons
Leydig Cell Hypoplasia , Sequencing LHCGR Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Leydig cell agenesis Labor Dr. Wisplinghoff Germany	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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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.