Clinical and research tests for C1836522 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	77	50	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
NAGA - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NAGA - 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 Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication 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
Kanzaki disease, 609242, Autosomal recessive (Alpha-N-acetylgalactosaminidase deficiency) (NAGA gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Kanzaki disease, 609242, Autosomal recessive (Alpha-N-acetylgalactosaminidase deficiency) (NAGA gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Invitae Comprehensive Lysosomal Storage Disorders Panel Invitae United States	87	57	D Deletion/duplication analysis
Invitae Mucopolysaccharidoses Plus (MPS+) Panel Invitae United States	38	27	D Deletion/duplication analysis 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
Schindler Disease (NAGA Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Reference Laboratory Genetics Spain	108	82	C Sequence analysis of the entire coding region
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Reference Laboratory Genetics Spain	109	78	C Sequence analysis of the entire coding region
Lysosomal Storage Disease Asper Biogene Asper Biogene LLC Estonia	70	50	C Sequence analysis of the entire coding region
Lysosomal Storage Disease NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	74	75	C Sequence analysis of the entire coding region
NAGA Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability NGS Panel Fulgent Genetics United States	1058	554	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Disorders NGS Panel Fulgent Genetics United States	186	106	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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