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Results: 1 to 20 of 31

Tests names and labsConditionsGenes, analytes, and microbesMethods

Nephronophthisis 19, 616217, Autosomal recessive; NPHP19 (Senior-Boichis syndrome) (DCDC2 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

Nephronophthisis 19, 616217, Autosomal recessive; NPHP19 (Senior-Boichis syndrome) (DCDC2 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 Expanded Renal Disease Panel

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

DCDC2 - 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 Nephronophthisis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
5427
  • D Deletion/duplication analysis

Invitae Cholestasis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
210134
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

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

Invitae Cystic Kidney Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9644
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Panel

PreventionGenetics, part of Exact Sciences
United States
13069
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Progressive Renal Disease Panel

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

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
362227
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Cystic Kidney Diseases Panel

PreventionGenetics, part of Exact Sciences
United States
4949
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephronophthisis and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2929
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nephronophthisis and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2929
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephronophthisis and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2929
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephronophthisis Panel

Genetic Services Laboratory University of Chicago
United States
1033
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathy Panel

PreventionGenetics, part of Exact Sciences
United States
135133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephronophthisis and Senior-Loken Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
1718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 31

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.