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Results: 1 to 20 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

Pseudohypoaldosteronism, type I, 264350, Autosomal recessive (Generalized pseudohypoaldosteronism type 1) (SCNN1B 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

Pseudohypoaldosteronism, type I, 264350, Autosomal recessive; PHA1B (Generalized pseudohypoaldosteronism type 1) (SCNN1A 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

Pseudohypoaldosteronism, type I, 264350, Autosomal recessive (Generalized pseudohypoaldosteronism type 1) (SCNN1G 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

NewbornGeneID

GeneID Lab - Advanced Molecular Diagnostics
United States
7361
  • D Deletion/duplication analysis
  • 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

SCNN1A - NGS including CNV analysis

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

SCNN1B - NGS including CNV analysis

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

SCNN1G - 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 Renal Tubular Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6839
  • 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

PulmZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
171137
  • C Sequence analysis of the entire coding region

Pseudohypoaldosteronism Type I Panel

PreventionGenetics, part of Exact Sciences
United States
24
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A 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

Complete panel of pulmonology. NGS panel of 66 genes.

Genologica Medica
Spain
11566
  • C Sequence analysis of the entire coding region

Bronchiectasis panel. NGS panel of 15 genes.

Genologica Medica
Spain
1915
  • C Sequence analysis of the entire coding region

Pseudohypoaldosterolism panel. NGS panel of 10 genes.

Genologica Medica
Spain
1510
  • C Sequence analysis of the entire coding region

Liddle syndrome panel. Panel NGS genes: SCNN1B, SCNN1G.

Genologica Medica
Spain
42
  • C Sequence analysis of the entire coding region

Monogenic Hypertension Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1611
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 47

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.