Clinical and research tests for C3550478 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	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
PROKR2 - 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
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hypogonadotropic Hypogonadism Panel Invitae United States	67	46	D Deletion/duplication analysis
Hypogonadotropic hypogonadism 3 with or without anosmia, 244200, Autosomal dominant; HH3 (Kallmann syndrome) (PROKR2 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
Hypogonadotropic Hypogonadism/Kallmann Panel PreventionGenetics, part of Exact Sciences United States	35	38	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
Hypogonadotropic Hypogonadism/Kallmann Syndrome via the PROKR2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Kallmann Syndrome (KS) Panel PreventionGenetics, part of Exact Sciences United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypogonadotropic hypogonadism 3 with or without anosmia (sequence analysis of PROKR2 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Kallmann syndrome panel. 9-gene NGS panel. Genologica Medica Spain	17	9	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
Microdeletion FISH Integrated Genetics Cytogenetics and Biochemistry Laboratory United States	10	1	M FISH-metaphase
Combined Pituitary Hormone Deficiency Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	12	10	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.