Clinical and research tests for C3151442 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 41

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Telomere Disorders Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	30	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS Panel for Dyskeratosis congenita BloodGenetics Spain	12	16	C Sequence analysis of the entire coding region
NGS Panel for Bone Marrow failure BloodGenetics Spain	57	69	C Sequence analysis of the entire coding region
WRAP53 - 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Dyskeratosis congenita, autosomal recessive 3, 613988, Autosomal recessive; DKCB3 (Dyskeratosis congenita) (WRAP53 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 recessive 3, 613988, Autosomal recessive; DKCB3 (Dyskeratosis congenita) (WRAP53 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
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
DCNext™ Ambry Genetics United States	12	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dyskeratosis Congenita (DC) via the WRAP53 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
Dyskeratosis Congenita (DC) and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	15	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	50	75	D Deletion/duplication analysis 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
Dermatological. Full panel Genologica Medica Spain	123	68	C Sequence analysis of the entire coding region
Congenital dyskeratosis panel. NGS panel of 13 genes. Genologica Medica Spain	19	13	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 41

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.