Clinical and research tests for 603961 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RPGRIP1L . Complete sequencing by NGS Laboratorio de Genetica Clinica SL Spain	1	1	E Sequence analysis of select exons
SEMA3A Gene Kallmann syndrome, SEMA3A related 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
SEMA3A - 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
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypogonadotropic Hypogonadism Panel Labcorp Genetics (formerly Invitae) LabCorp United States	67	46	D Deletion/duplication analysis
Cardiac channelopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac channelopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	41	C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac channelopathy Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Brugada syndrome and related disorders Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Brugada syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Brugada syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	25	C Sequence analysis of the entire coding region T Targeted variant analysis
Hypogonadotropic hypogonadism 16 with or without anosmia, 614897, Autosomal dominant; HH16 (Kallmann syndrome) (SEMA3A 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 Syndrome via the SEMA3A 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
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cataracts Panel PreventionGenetics, part of Exact Sciences United States	157	171	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Cardiac channelopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	41	C Sequence analysis of the entire coding region T Targeted variant 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.