Clinical and research tests for C4310473 - 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
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
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 Hypoparathyroidism Panel Invitae United States	41	18	D Deletion/duplication analysis
Invitae Renal Tubular Disorders Panel Invitae United States	68	39	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication 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 Invitae United States	66	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypercalcemia, infantile, 2, 616963, Autosomal recessive; HCINF2 (Autosomal recessive infantile hypercalcemia) (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
Hypercalcemia, infantile, 2, 616963, Autosomal recessive; HCINF2 (Autosomal recessive infantile hypercalcemia) (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 Invitae 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 Hospital United States	527	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

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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.