Clinical and research tests for 2591 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GALNT3 Gene Tumoral calcinosis, hyperphosphatemic, familial, type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Comprehensive Nephrology Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	299	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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 Labcorp Genetics (formerly Invitae) LabCorp 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 Labcorp Genetics (formerly Invitae) LabCorp United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Disorders of Glycosylation Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
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
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
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
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

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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.