Clinical and research tests for C2676782 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Renal Stone/Electrolyte Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	82	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC9A3R1 - 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
Abnormal Mineralization Panel Centogene AG - the Rare Disease Company Germany	95	95	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Nephrolithiasis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	32	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nephrolithiasis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	32	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrolithiasis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	32	31	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
Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287, Autosomal dominant; NPHLOP2 (Dominant hypophosphatemia with nephrolithiasis or osteoporosis) (SLC9A3R1 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
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
Nephrolithiasis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	32	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nephrolithiasis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	32	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrolithiasis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	32	31	C Sequence analysis of the entire coding region T Targeted variant analysis
Hypophosphatemic Nephrolithiasis/Osteoporosis-2 (NPHLOP2) via the NHERF1/SLC9A3R1 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
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
Low Bone Mass Panel (MitomeNGS) Baylor Genetics United States	39	22	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
Nephrolithiasis/osteoporosis, hypophosphatemic, 2 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region
Nephrolithiasis/osteoporosis, hypophosphatemic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	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

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