Clinical and research tests for C0268165 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hyperoxaluria Panel, Random, Urine Mayo Clinic Laboratories Mayo Clinic United States	5	1	A Analyte
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
GRHPR - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis 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
Invitae Nephrolithiasis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	66	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperoxaluria, primary, type II, 260000, Autosomal recessive; HP2 (Primary hyperoxaluria) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hyperoxaluria, primary, type II, 260000, Autosomal recessive; HP2 (Primary hyperoxaluria) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hyperoxaluria, primary, type II, 260000, Autosomal recessive; HP2 (Primary hyperoxaluria) (GRHPR 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
Hyperoxaluria, primary, type II, 260000, Autosomal recessive; HP2 (Primary hyperoxaluria) (GRHPR 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 Progressive Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	310	195	D Deletion/duplication analysis
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
Primary Hyperoxaluria Type 2 Myriad Genetics, Inc. United States	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
GRHPR - Hyperoxaluria type II Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	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.