Clinical and research tests for C5231558 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ABCA1 - 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
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Lipidemia Panel Invitae United States	33	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ApoA-I and apoC-III deficiency, combined (Apolipoprotein A-I deficiency) (APOA1 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
HDL deficiency, type 2, 604091 (Apolipoprotein A-I deficiency) (ABCA1 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
Hypoalphalipoproteinemia, 604091 (Apolipoprotein A-I deficiency) (APOA1 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
Corneal clouding, autosomal recessive (APOA1 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
ABCA1 - HDL deficiency type 2 Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Familial Amyloidosis via the APOA1 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
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Inherited Renal Disorders Panel Dhiti Omics Technologies Private Ltd India	72	57	C Sequence analysis of the entire coding region
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	C Sequence analysis of the entire coding region
Familial hypercholesterolemia panel. 16-gene NGS panel. Genologica Medica Spain	20	16	C Sequence analysis of the entire coding region
Hyperlipidemia panel. 18-gene NGS panel. Genologica Medica Spain	25	18	C Sequence analysis of the entire coding region
Familial Amyloidosis Genologica Medica Spain	44	19	C Sequence analysis of the entire coding region
ABCA1 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Hyperlipidemia NGS Panel Fulgent Genetics United States	19	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Tangier Disease (ABCA1 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	9	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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