U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 66

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Alport syndrome

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
43
  • C Sequence analysis of the entire coding region

COL4A3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
8157
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
405219
  • D Deletion/duplication analysis

Alport Syndrome Genetic Panel (2 Day STAT TAT)

Machaon Diagnostics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Alport Syndrome Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
96
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Alport syndrome, autosomal dominant, 104200, Autosomal dominant (Alport syndrome) (COL4A3 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

Alport syndrome, autosomal dominant, 104200, Autosomal dominant (Alport syndrome) (MLPA)

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

Alport syndrome, autosomal dominant, 104200, Autosomal dominant (Alport syndrome) (COL4A3 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

Alport syndrome, autosomal dominant, 104200, Autosomal dominant (Alport syndrome) (Prenatal) (MLPA)

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

Invitae Progressive Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
310195
  • D Deletion/duplication analysis

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
525338
  • C Sequence analysis of the entire coding region

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
361224
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephrotic syndrome and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3942
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nephrotic syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3942
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephrotic syndrome and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3942
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Alport syndrome panel

Collagen Diagnostic Laboratory University of Washington
United States
63
  • D Deletion/duplication analysis
  • 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.