Clinical and research tests for C3810283 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NEUROFIBROMATOSI DE TYPE 2 - NF2 gene Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	3	3	D Deletion/duplication analysis L Linkage analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LZTR1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae RASopathies and Noonan Spectrum Disorders Panel Invitae United States	60	28	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Schwannomatosis-2, susceptibility to, 615670, Autosomal dominant; SWNTS2 (Neurofibromatosis type 3) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Schwannomatosis-2, susceptibility to, 615670, Autosomal dominant; SWNTS2 (Neurofibromatosis type 3) (LZTR1 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
Known Mutation Testing- NGS Medical Genomics Laboratory Department of Genetics UAB United States	9	1	E Sequence analysis of select exons
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Invitae United States	160	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences United States	223	198	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Schwannomatosis Panel PreventionGenetics, part of Exact Sciences United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Noonan Syndrome via the LZTR1 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
Invitae Cardiomyopathy Comprehensive Panel Invitae United States	198	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Invitae United States	239	100	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cancer Panel PreventionGenetics, part of Exact Sciences United States	122	117	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary pediatric cancer panel. NGS panel of 71 genes. Genologica Medica Spain	158	71	C Sequence analysis of the entire coding region
Noonan syndrome panel. NGS panel of 22 genes. Genologica Medica Spain	48	22	C Sequence analysis of the entire coding region
OncoGeneDx Custom Panel GeneDx United States	103	82	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.