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Results: 1 to 20 of 35

Tests names and labsConditionsGenes, analytes, and microbesMethods

Nephronophthisis 9, 613824; NPHP9 (Nephronophthisis) (NEK8 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 9, 613824; NPHP9 (Nephronophthisis) (NEK8 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

MVL Vision Panel

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

NEK8 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

CentoDysmorph Panel

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

Invitae Cholestasis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
210134
  • 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

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 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

Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Panel

PreventionGenetics, part of Exact Sciences
United States
1113
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Dominant Polycystic Kidney Disease (ADPKD) Panel

PreventionGenetics, part of Exact Sciences
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephronophthisis via the NEK8/NPHP9 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

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

Results: 1 to 20 of 35

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.