Clinical and research tests for C4692564 - 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
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GALNT3 - 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
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae 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
Tumoral calcinosis, hyperphosphatemic, familial, 211900, Autosomal recessive (Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome) (GALNT3 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
Tumoral calcinosis, hyperphosphatemic, 211900, Autosomal recessive; HFTC (Familial tumoral calcinosis) (KL 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
Tumoral calcinosis, hyperphosphatemic, familial, 211900, Autosomal recessive (Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Tumoral calcinosis, hyperphosphatemic, familial, 211900, Autosomal recessive (Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome) (FGF23 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
Coronary artery disease, susceptibility to (KL 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
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperphosphatemic familial tumoral calcinosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Hyperphosphatemic familial tumoral calcinosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperphosphatemic familial tumoral calcinosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GALNT3-Related Disorders via the GALNT3 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
Invitae Congenital Disorders of Glycosylation Panel Invitae United States	203	152	D Deletion/duplication analysis 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

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