Clinical and research tests for TNFRSF11A - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Paget disease of bone and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Paget disease of bone and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	7	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Paget disease of bone and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States	223	154	D Deletion/duplication 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
Low Bone Mass Panel (MitomeNGS) Baylor Genetics United States	39	22	C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Paget Disease of Bone, Autosomal Recessive Osteopetrosis, and Familial Expansile Osteolysis via the TNFRSF11A Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Paget Disease of Bone (PDB) Panel PreventionGenetics, part of Exact Sciences United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal	1	606	C Sequence analysis of the entire coding region
Osteopetrosis (panel NGS basado en WES de 9 genes, incluyendo análisis de CNVs) CGC Genetics Unilabs Portugal	1	9	C Sequence analysis of the entire coding region
Autosomal recessive osteopetrosis 7 , Paget's disease of the bone (sequence analysis of TNFRSF11A gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Skeletal Diseases Panel Mendelics Brazil	1	333	C Sequence analysis of the entire coding region
OSTEOPETROSIS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	30	E Sequence analysis of select exons
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
PERIODIC FEVER EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	17	E Sequence analysis of select exons
AUTOINFLAMMATORY SYNDROMES EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	108	E Sequence analysis of select exons

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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.

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Results: 21 to 40 of 75

Results: 21 to 40 of 75