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Results: 1 to 20 of 35

Tests names and labsConditionsGenes and analytesMethods

Retinitis pigmentosa type 13, autosomal dominant

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

Retinitis Pigmentosa (includes RPGR ORF15) NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
8780
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Dominant Retinitis Pigmentosa NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
3029
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

PRPF8 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PRPF8 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis

PRPF8 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

PRPF8 Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Retinitis Pigmentosa via the PRPF8 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Recessive Retinitis Pigmentosa

Asper Biotech Asper Biotech Ltd.
Estonia
5857
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Retinitis pigmentosa

VECMD
Mexico
98
  • L Linkage analysis

PRPF8

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

RETINITIS PIGMENTOSA

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
5657
  • C Sequence analysis of the entire coding region

RETINITIS PIGMENTOSA A.D

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2727
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes)

CGC Genetics
Portugal
127
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa (NGS panel for 72 genes)

CGC Genetics
Portugal
6772
  • C Sequence analysis of the entire coding region

Retina/Photoreceptor Dystrophy: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
36120
  • C Sequence analysis of the entire coding region

PRPF8 Select Exons Sequencing

GeneDx
United States
11
  • E Sequence analysis of select exons

Retinitis pigmentosa 13, AD (sequence analysis of PRPF8 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 35

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.