Clinical and research tests for C3539123 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 46

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuronal Ceroid-Lipofuscinoses Panel Genetic Services Laboratory University of Chicago United States	11	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	77	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Frontotemporal Dementia with C9orf72 Panel Invitae United States	30	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
GRN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel Invitae United States	72	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel PreventionGenetics, part of Exact Sciences United States	48	39	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ceroid lipofuscinosis, neuronal, 11, 614706, Autosomal recessive (CLN11) (NCL11) (GRN gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Ceroid lipofuscinosis, neuronal, 11, 614706, Autosomal recessive (CLN11) (NCL11) (GRN 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
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Invitae Frontotemporal Dementia Panel Invitae United States	29	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontotemporal Dementia via the GRN 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
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
Amyotrophic lateral sclerosis panel. 32-gene NGS panel. Genologica Medica Spain	66	32	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
Dementia panel. NGS panel of 21 genes. Genologica Medica Spain	44	21	C Sequence analysis of the entire coding region
Nöronal Ceroid Lipofuscinosis (NCL) Genetic Panel Duzen Laboratories Duzen BBAGUAS Turkey	16	15	C Sequence analysis of the entire coding region
Neuronal Ceroid Lipofuscinoses Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Czech Republic	13	13	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 46

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.