Clinical and research tests for C0751383 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lysosomal Storage Disorders Panel PreventionGenetics United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Parkinson Disease and Parkinsonism Panel PreventionGenetics United States	68	70	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Retinitis Pigmentosa Panel PreventionGenetics United States	91	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autosomal Recessive Retinitis Pigmentosa (RP) Panel PreventionGenetics United States	62	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neuronal Ceroid Lipofuscinosis 3 (Batten Disease) via the CLN3 c.461-280_677+382 Deletion PreventionGenetics United States	1	1	D Deletion/duplication analysis T Targeted variant analysis
Neuronal Ceroid Lipofuscinoses (Batten Disease) Panel PreventionGenetics United States	15	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neuronal Ceroid Lipofuscinosis Type 3 via the CLN3 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CLN Type 3 Duzen Laboratories Duzen BBAGUAS Turkey	1	1	T Targeted variant analysis
CLN3 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
Super Panel Plus NxGen MDx United States	116	117	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Super Panel 113 NxGen MDx United States	113	115	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 106 plus TSE Natera, Inc. United States	103	107	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 27 Natera, Inc. United States	28	28	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 106 Natera, Inc. United States	103	106	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 27 plus TSE Natera, Inc. United States	28	29	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Plus TSE Natera, Inc. United States	265	275	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 137 plus TSE Natera, Inc. United States	135	138	E Enzyme assay E Sequence analysis of select exons 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.