Clinical and research tests for C3553622 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
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
Aplastic anemia, 614743, Autosomal dominant (Idiopathic aplastic anemia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Aplastic anemia, 614743, Autosomal dominant (Idiopathic aplastic anemia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Aplastic anemia, 614743, Autosomal dominant (Idiopathic aplastic anemia) (TERC 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
Pulmonary fibrosis, idiopathic, susceptibility to, 614743, Autosomal dominant; PFBMFT2 (Idiopathic aplastic anemia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Pulmonary fibrosis, idiopathic, susceptibility to, 614743, Autosomal dominant; PFBMFT2 (Idiopathic aplastic anemia) (TERC 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
Dyskeratosis congenita, autosomal dominant 1, 127550, Autosomal dominant; DKCA1 (Dyskeratosis congenita) (TERC 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
Dyskeratosis congenita, autosomal dominant 1, 127550, Autosomal dominant; DKCA1 (Dyskeratosis congenita) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	163	128	C Sequence analysis of the entire coding region
TeloZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	24	15	C Sequence analysis of the entire coding region
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	125	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyskeratosis Congenita (DC) via the TERC 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
TERT/TERC gene sequence and deletion/duplication Ambry Genetics United States	6	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DCNext™ Ambry Genetics United States	12	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel PreventionGenetics, part of Exact Sciences United States	8	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cancer Panel PreventionGenetics, part of Exact Sciences United States	122	117	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Cancer Panel Dhiti Omics Technologies Private Ltd India	136	84	C Sequence analysis of the entire coding region
Interstitial lung disease panel. 25-gene NGS panel. Genologica Medica Spain	40	25	C Sequence analysis of the entire coding region
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region

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