Clinical and research tests for 7066 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PlateletGenex Thrombocytopenia Panel (26 genes) (2 Day STAT TAT) Machaon Diagnostics United States	22	26	C Sequence analysis of the entire coding region
THPO - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Blood Coagulation Panel Centogene AG - the Rare Disease Company Germany	110	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Familial Essential Thrombocythemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	9	3	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	249	155	C Sequence analysis of the entire coding region
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	266	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocythemia 1, 187950, Autosomal dominant; THCYT1 (Essential thrombocythemia) (THPO 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
Inherited Thrombocytopenia Panel Versiti Diagnostic Laboratories Versiti, Inc United States	40	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Thrombocythemia via the THPO Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bleeding Disorders Panel PreventionGenetics, part of Exact Sciences United States	78	79	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Platelet Disorder Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	1	105	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Haematological diseases panel _v.2.0 CGC Genetics Unilabs Portugal	1	344	C Sequence analysis of the entire coding region
Bleeding Disorders Panel CGC Genetics Unilabs Portugal	1	121	C Sequence analysis of the entire coding region
Bone Marrow Failure Syndrome Panel CGC Genetics Unilabs Portugal	1	175	C Sequence analysis of the entire coding region
Bone diseases panel_v.2.0 CGC Genetics Unilabs Portugal	1	662	C Sequence analysis of the entire coding region
Thrombocythemia 1 (sequence analysis of THPO gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Familial thrombocytosis (deletion/duplication analysis of THPO gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis

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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.