Clinical and research tests for ACTN1 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 40

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ACTN1 Gene Bleeding disorder, platelet-type 15 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
PlateletGenex Thrombocytopenia Panel (26 genes) (2 Day STAT TAT) Machaon Diagnostics United States	22	26	C Sequence analysis of the entire coding region
ACTN1 - 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 Invitae United States	755	562	D Deletion/duplication analysis
Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel Invitae United States	70	50	D Deletion/duplication analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
Bleeding disorder, platelet-type, 15, 615193, Autosomal dominant; BDPLT15 (Autosomal dominant macrothrombocytopenia) (ACTN1 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
Platelet-Type Bleeding Disorder 15 and Thrombocytopenia via the ACTN1 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
Platelet bleeding disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Platelet bleeding disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Platelet bleeding disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	34	C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia Panel - Expanded PreventionGenetics, part of Exact Sciences United States	32	33	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
Hematological Malignancies Hereditary Panel CGC Genetics Unilabs Portugal	1	147	C Sequence analysis of the entire coding region
Hematology Comprehensive Panel CGC Genetics Unilabs Portugal	1	291	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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 40

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.