Clinical and research tests for C1968603 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 41

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Osteopetrosis core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteopetrosis core NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Osteogenesis Imperfecta and Bone Fragility Panel Invitae United States	120	65	D Deletion/duplication analysis
Osteopetrosis via the OSTM1 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
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
OSTM1 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Osteoporosis and bone dysplasia panel. 25-gene NGS panel. Genologica Medica Spain	56	25	C Sequence analysis of the entire coding region
Osteopetrosis panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	14	14	C Sequence analysis of the entire coding region
Osteopetrosis, autosomal recessive: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	8	8	C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis NGS Panel Fulgent Genetics United States	339	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteogenesis Imperfecta Asper Biogene Asper Biogene LLC Estonia	80	41	C Sequence analysis of the entire coding region
Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes Reference Laboratory Genetics Spain	10	9	C Sequence analysis of the entire coding region
OSTEOPETROSIS, AUTOSOMAL RECESSIVE Laboratorio de Genetica Clinica SL Spain	8	8	C Sequence analysis of the entire coding region
Autosomal Recessive Malignant Osteopetrosis Type 5 , Sequencing OSTM1 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Skeletal dysplasia with increased bone density Panel CeGaT GmbH Germany	26	28	C Sequence analysis of the entire coding region
Osteopetrosis, autosomal recessive 5 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
OSTM1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasias NGS Panel Fulgent Genetics United States	543	178	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 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.