Clinical and research tests for C3151038 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PSEN1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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 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
Acne inversa, familial, 3, 613737, Autosomal dominant (PSEN1 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
Acne inversa, familial, 3, 613737, Autosomal dominant (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
PSEN1 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	5	1	D Deletion/duplication analysis
Alzheimer's panel Genologica Medica Spain	25	10	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
Alzheimer's panel. NGS panel of 10 genes. Genologica Medica Spain	25	10	C Sequence analysis of the entire coding region
Arrhythmia & Cardiomyopathy Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	211	93	C Sequence analysis of the entire coding region
Cardiomyopathy Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	170	71	C Sequence analysis of the entire coding region
Cardiomyopathy Panel, Dilated CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	134	48	C Sequence analysis of the entire coding region
PSEN1 Institute for Human Genetics University Medical Center Freiburg Germany	5	1	C Sequence analysis of the entire coding region
Acne inversa: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	3	C Sequence analysis of the entire coding region
Single gene testing PSEN1 CeGaT GmbH Germany	5	1	C Sequence analysis of the entire coding region
PSEN1 Single Gene Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel Fulgent Genetics United States	9	3	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
Sudden Death Syndrome NGS Panel Fulgent Genetics United States	168	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.