Clinical and research tests for C3150652 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC34A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypoparathyroidism Panel Labcorp Genetics (formerly Invitae) LabCorp United States	41	18	D Deletion/duplication analysis
Invitae Renal Tubular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	68	39	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Bone Fragility and Fracture Panel PreventionGenetics, part of Exact Sciences United States	87	74	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Nephrolithiasis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	66	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fanconi renotubular syndrome 2, 613388, Autosomal recessive; FRTS2 (Primary Fanconi syndrome) (SLC34A1 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
Fanconi renotubular syndrome 2, 613388, Autosomal recessive; FRTS2 (Primary Fanconi syndrome) (SLC34A1 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
Invitae Hypophosphatemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	23	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	C Sequence analysis of the entire coding region
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 Labcorp Genetics (formerly Invitae) LabCorp 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
SLC34A1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC34A1 Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis
SLC34A1 Sequence Analysis Baylor Genetics United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
SLC34A1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	T Targeted variant analysis
SLC34A1 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region

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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.