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Results: 1 to 9 of 9

Tests names and labsConditionsGenes, analytes, and microbesMethods

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Nephronophthisis and Joubert Syndrome via the NPHP1 Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel

Invitae
United States
2217
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Senior-Loken Syndrome Panel

Blueprint Genetics
Finland
18
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathy Panel

Blueprint Genetics
Finland
699
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Tubulopathy and Nephrolithiasis Panel

Genetic Services Laboratory University of Chicago
United States
1275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Defects and Heterotaxy Panel

Invitae
United States
12882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Ciliopathies Panel

Invitae
United States
144102
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Bardet-Biedl Syndrome Panel

Invitae
United States
1916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 9 of 9

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.