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Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875, Autosomal recessive; CAVIPMR (EMC1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875, Autosomal recessive; CAVIPMR (EMC1 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

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Invitae
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa Panel

PreventionGenetics, part of Exact Sciences
United States
9182
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Dominant Retinitis Pigmentosa (RP) Panel

PreventionGenetics, part of Exact Sciences
United States
3230
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Recessive Retinitis Pigmentosa (RP) Panel

PreventionGenetics, part of Exact Sciences
United States
6260
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

Cerebellar atrophy, visual impairment, and psychomotor retardation: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

EMC1

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10392
  • C Sequence analysis of the entire coding region

Results: 1 to 12 of 12

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.