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Results: 1 to 20 of 51

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Expanded Renal Disease Panel

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

SLC34A3 - 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

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Bone Fragility and Fracture Panel

PreventionGenetics
United States
8774
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

LowBoneDensityZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
11050
  • C Sequence analysis of the entire coding region

Invitae Nephrolithiasis Panel

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

Hypophosphatemic rickets with hypercalciuria, 241530, Autosomal recessive; HHRH (Hereditary hypophosphatemic rickets with hypercalciuria) (SLC34A3 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

Invitae Hypophosphatemia Panel

Invitae
United States
2317
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Hypophosphatemic Rickets with Hypercalciuria via the SLC34A3 Gene

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

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

Results: 1 to 20 of 51

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.