Clinical and research tests for 607002 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLC52A3 Gene Fazio-Londe disease NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
PROK2 Gene Kallmann syndrome type 4 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
PROK2 - 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 Labcorp Genetics (formerly Invitae) LabCorp United States	67	46	D Deletion/duplication analysis
Hypogonadotropic hypogonadism 4 with or without anosmia, 610628, Autosomal dominant; HH4 (Kallmann syndrome) (PROK2 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
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 PROK2 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
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Hypogonadotropic hypogonadism (WES based NGS panel of 40 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	40	C Sequence analysis of the entire coding region
Male Infertility Panel CGC Genetics Unilabs Portugal	1	165	C Sequence analysis of the entire coding region
Female Infertility Panel CGC Genetics Unilabs Portugal	1	129	C Sequence analysis of the entire coding region
Kallmann syndrome (deletion/dupliction analysis of FGFR1, GNRH1, GNRHR, KISS1R, NELF, PROK2 and PROKR2 genes) CGC Genetics Unilabs Portugal	1	7	D Deletion/duplication analysis

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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.