Clinical and research tests for C1853271 - Genetic Testing Registry (GTR) - NCBI

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

<< First < Prev

Page 2 of 3

Results: 21 to 40 of 49

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Panel PreventionGenetics, part of Exact Sciences United States	20	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Panel PreventionGenetics, part of Exact Sciences United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Osteogenesis Imperfecta and Bone Fragility Panel Invitae United States	120	65	D Deletion/duplication analysis
Nephrolithiasis and Nephrocalcinosis Panel PreventionGenetics, part of Exact Sciences United States	33	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SLC34A3 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Nephrolithiasis panel. 35-gene NGS panel. Genologica Medica Spain	60	35	C Sequence analysis of the entire coding region
Osteogenesis imperfecta panel. 28-gene NGS panel. Genologica Medica Spain	48	27	C Sequence analysis of the entire coding region
Skeletal disease dysplasia panel with abnormal mineralization. 32-gene NGS panel. Genologica Medica Spain	60	32	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Hypophosphatemic rickets panel. NGS panel of 13 genes. Genologica Medica Spain	25	13	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Osteogenesis Imperfecta and Decreased Bone Density NGS Panel Fulgent Genetics United States	111	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypophosphatemic Rickets NGS Panel Fulgent Genetics United States	31	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Abnormal Mineralization NGS Panel Fulgent Genetics United States	77	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Monogenic Kidney Stone Panel Rare Kidney Stone Consortium And The Mayo Clinic Hyperoxaluria Center Mayo Clinic United States	21	144	C Sequence analysis of the entire coding region
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Reference Laboratory Genetics Spain	34	28	C Sequence analysis of the entire coding region
Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes Reference Laboratory Genetics Spain	9	7	C Sequence analysis of the entire coding region
HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Hereditary Hypophosphatemic Rickets with Hypercalciuria , Sequencing SLC34A3 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region

<< First < Prev

Page 2 of 3

Results: 21 to 40 of 49

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.