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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

TRPM1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early-Onset High Myopia Panel

PreventionGenetics, part of Exact Sciences
United States
285137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Stationary Night Blindness Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3622
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216; CSNB1C (Congenital stationary night blindness) (TRPM1 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

Labcorp Genetics (formerly Invitae) LabCorp
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

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

Congenital Stationary Night Blindness Panel

PreventionGenetics, part of Exact Sciences
United States
1817
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TRPM1 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
11
  • C Sequence analysis of the entire coding region

TRPM1 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • D Deletion/duplication analysis

Congenital stationary night blindness panel. 17-gene NGS panel.

Genologica Medica
Spain
2517
  • 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

Night blindness, congenital stationary: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1413
  • C Sequence analysis of the entire coding region

Congenital Stationary Night Blindness NGS Panel

Fulgent Genetics
United States
2717
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Stationary Night Blindness (CSNB) NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
1715
  • C Sequence analysis of the entire coding region

NIGHT BLINDNESS, CONGENITAL STATIONARY (AUTOSOMAL RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
66
  • C Sequence analysis of the entire coding region

Ashkenazi Jewish Panel

Molecular Vision Laboratory
United States
128
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.