Clinical and research tests for C1876161 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 94

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuronal Ceroid Lipofuscinoses (Batten Disease) Panel PreventionGenetics, part of Exact Sciences United States	15	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neuronal Ceroid Lipofuscinosis 2 via the TPP1 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
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
TPP1 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel CGC Genetics Unilabs Portugal	17	367	C Sequence analysis of the entire coding region
Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain	175	102	C Sequence analysis of the entire coding region
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain	220	139	C Sequence analysis of the entire coding region
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain	247	156	C Sequence analysis of the entire coding region
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain	409	283	C Sequence analysis of the entire coding region
Neuronal ceroid lipofuscinosis and progressive myoclonic epilepsy panel. 31-gene NGS panel. Genologica Medica Spain	46	31	C Sequence analysis of the entire coding region
CLN Type 2 Duzen Laboratories Duzen BBAGUAS Turkey	1	1	T Targeted variant analysis
Nöronal Ceroid Lipofuscinosis (NCL) Genetic Panel Duzen Laboratories Duzen BBAGUAS Turkey	16	15	C Sequence analysis of the entire coding region
Seroid Lipofuccinosis (Neuronal 2) Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	C Sequence analysis of the entire coding region
Neuronal Ceroid Lipofuscinosis 2 (CLN2): TPP1 Sequencing Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	1	1	C Sequence analysis of the entire coding region
Horizon 137 Male Natera, Inc. United States	130	133	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
TPP1 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
TPP1 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
TPP1 Prenatal Sequence Analysis (GeneAware) (Prenatal Sequence Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons

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Results: 21 to 40 of 94

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.

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Results: 21 to 40 of 94

Results: 21 to 40 of 94