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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

Renal Stone/Electrolyte Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
8271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AP2S1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • 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
9595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Nephrolithiasis and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3231
  • 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
3231
  • 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
3231
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypocalciuric hypercalcemia, type III, 600740, Autosomal dominant; HHC3 (Familial hypocalciuric hypercalcemia) (AP2S1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Nephrolithiasis and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3231
  • 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
3231
  • 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
3231
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypoparathyroidism Panel

PreventionGenetics, part of Exact Sciences
United States
1515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Hypocalciuric Hypercalcemia (FHH) Panel

PreventionGenetics, part of Exact Sciences
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Hypocalciuric Hypercalcemia (FHH) via the AP2S1 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hyperparathyroidism panel. NGS panel of 13 genes.

Genologica Medica
Spain
2113
  • C Sequence analysis of the entire coding region

Bartter syndrome panel. 9-gene NGS panel.

Genologica Medica
Spain
139
  • C Sequence analysis of the entire coding region

Hypocalciuric hypercalcemia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.