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Results: 1 to 20 of 23

Tests names and labsConditionsGenes, analytes, and microbesMethods

Senior Loken Syndrome

Amplexa Genetics Amplexa Genetics A/S
Denmark
112
  • S Mutation scanning of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Nephronophthisis and Joubert Syndrome via the NPHP1 Gene

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

Senior-Loken Syndrome

Asper Biogene Asper Biogene LLC
Estonia
199
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
367291
  • C Sequence analysis of the entire coding region

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

CEP290 single gene sequencing

Molecular Vision Laboratory
United States
21
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Senior-Loken Syndrome panel

Molecular Vision Laboratory
United States
104
  • C Sequence analysis of the entire coding region

Joubert Syndrome Panel

Molecular Vision Laboratory
United States
4824
  • C Sequence analysis of the entire coding region

Ciliopathies

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
4493
  • C Sequence analysis of the entire coding region

Cystic Disease and Nephronopthisis panel

Clinical Genomics Laboratory Washington University in St. Louis
United States
1633
  • 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

Bardet-Biedl syndrome panel

Molecular Vision Laboratory
United States
3823
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372283
  • C Sequence analysis of the entire coding region

Senior-Loken Syndrome Panel

CeGaT GmbH
Germany
1412
  • C Sequence analysis of the entire coding region

Senior Loken Syndrome Panel

CeGaT GmbH
Germany
1112
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 23

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.