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Results: 1 to 20 of 43

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

Invitae Nephronophthisis Panel

Invitae
United States
5427
  • D Deletion/duplication analysis

Invitae Cholestasis Panel

Invitae
United States
210134
  • D Deletion/duplication analysis

Invitae Cystic Kidney Disease Panel

Invitae
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

Senior-Loken syndrome 4, 606996, Autosomal recessive; SLSN4 (Senior-Loken syndrome) (NPHP4 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 Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Progressive Renal Disease Panel

Invitae
United States
310195
  • D Deletion/duplication analysis

RenalZoom

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication 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

NPHP4

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Cholestasis panel. NGS panel of 46 genes.

Genologica Medica
Spain
8846
  • C Sequence analysis of the entire coding region

Nephronoptysis panel. NGS panel of 20 genes.

Genologica Medica
Spain
4220
  • C Sequence analysis of the entire coding region

Senior-Loken syndrome panel. 8-gene NGS panel.

Genologica Medica
Spain
188
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

Ciliopathy panel. NGS panel of 99 genes.

Genologica Medica
Spain
15297
  • C Sequence analysis of the entire coding region

Congenital liver fibrosis panel. NGS panel of 52 genes.

Genologica Medica
Spain
8950
  • C Sequence analysis of the entire coding region

Cholestasis NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10473
  • C Sequence analysis of the entire coding region

Nephronophthisis

Asper Biogene Asper Biogene LLC
Estonia
4420
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 43

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