Clinical and research tests for C4225184 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PIEZO1 - 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 Red Blood Cell Membrane Disorders and Enzymopathies Panel Invitae United States	57	28	D Deletion/duplication analysis
Invitae Hereditary Hemolytic Anemia Panel Invitae United States	74	39	D Deletion/duplication analysis
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	267	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lymphedema, hereditary, III, 616843, Autosomal recessive; LMPH3 (Dehydrated hereditary stomatocytosis) (PIEZO1 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
Lymphedema, hereditary, III, 616843, Autosomal recessive; LMPH3 (Dehydrated hereditary stomatocytosis) (PIEZO1 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
Hereditary Hemolytic Anemia Panel PreventionGenetics, part of Exact Sciences United States	44	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Xerocytosis via the PIEZO1 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
Lymphedema Panel PreventionGenetics, part of Exact Sciences United States	15	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Vascular Malformations Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	24	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lymphatic malformations and related disorders panel. NGS panel of 11 genes. Genologica Medica Spain	31	11	C Sequence analysis of the entire coding region
Lymphatic malformation: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
Non-Immune Hydrops NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	86	87	C Sequence analysis of the entire coding region
Primary lymphedema and Hydrops fetalis (27 genes) Center for Human Genetics Cliniques Universitaires Saint Luc Belgium	14	25	E Sequence analysis of select exons

Results: 1 to 15 of 15

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.