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Results: 1 to 20 of 66

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

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SLC3A1 - MLPA

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis

SLC3A1 - NGS including CNV analysis

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

SLC7A9 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • 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

Cystinuria Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
13
  • 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
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

Invitae Nephrolithiasis Panel

Invitae
United States
6640
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cystinuria, 220100, Autosomal recessive, Autosomal dominant (Cystinuria) (SLC7A9 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

Cystinuria, 220100, Autosomal recessive, Autosomal dominant (Cystinuria) (SLC7A9 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Cystinuria, 220100, Autosomal recessive, Autosomal dominant (Cystinuria) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cystinuria, 220100, Autosomal recessive, Autosomal dominant (Cystinuria) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cystinuria, 220100, Autosomal recessive, Autosomal dominant (Cystinuria) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cystinuria, 220100, Autosomal recessive, Autosomal dominant (Cystinuria) (SLC3A1 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

Results: 1 to 20 of 66

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.