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Results: 1 to 20 of 33

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

SLC4A1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel

Invitae
United States
5728
  • D Deletion/duplication analysis

Invitae Renal Tubular Disorders Panel

Invitae
United States
6839
  • D Deletion/duplication analysis

Invitae Hereditary Hemolytic Anemia Panel

Invitae
United States
7439
  • D Deletion/duplication analysis

Invitae Nephrolithiasis Panel

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

Hereditary Hemolytic Anemia Panel

PreventionGenetics, part of Exact Sciences
United States
4434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Nephrolithiasis and Nephrocalcinosis Panel

PreventionGenetics, part of Exact Sciences
United States
3330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal Renal Tubular Acidosis Panel

PreventionGenetics, part of Exact Sciences
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SLC4A1

Institute for Human Genetics University Medical Center Freiburg
Germany
111
  • C Sequence analysis of the entire coding region

Nephrolithiasis panel. 35-gene NGS panel.

Genologica Medica
Spain
6035
  • C Sequence analysis of the entire coding region

Renal tubular acidosis panel. Panel NGS genes: ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4.

Genologica Medica
Spain
155
  • C Sequence analysis of the entire coding region

Bartter Syndrome

Asper Biogene Asper Biogene LLC
Estonia
3624
  • C Sequence analysis of the entire coding region

Spherocytosis Panel, Hereditary

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
196
  • C Sequence analysis of the entire coding region

SLC4A1-Associated Distal Renal Tubular Acidosis (SLC4A1 Single Gene Test)

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Renal Tubular Acidosis NGS Panel

Fulgent Genetics
United States
85
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Erythrocytosis NGS Panel

Fulgent Genetics
United States
6124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal Mineralization NGS Panel

Fulgent Genetics
United States
7730
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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.