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Results: 1 to 20 of 133

Tests names and labsConditionsGenes, analytes, and microbesMethods

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

Primary Ciliary Dyskinesia Panel

Mayo Clinic Laboratories Mayo Clinic
United States
439
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel

Laboratory of Human Genetics GENOMED Health Care Center
Poland
113
  • C Sequence analysis of the entire coding region

MVL Vision Panel

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

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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 Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Invitae Neonatal Respiratory Distress Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
163111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Macular degeneration, X-linked atrophic, 300834, X-linked recessive (Cone rod dystrophy) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Macular degeneration, X-linked atrophic, 300834, X-linked recessive (Cone rod dystrophy) (RPGR 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

Retinitis pigmentosa 3, 300029; RP3 (Retinitis pigmentosa) (RPGR 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

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (Primary ciliary dyskinesia-retinitis pigmentosa syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (Primary ciliary dyskinesia-retinitis pigmentosa syndrome) (RPGR 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

Retinitis pigmentosa 3, 300029; RP3 (Retinitis pigmentosa) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cone-rod dystrophy, X-linked, 1, 304020, X-linked; CORDX1 (Cone rod dystrophy) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cone-rod dystrophy, X-linked, 1, 304020, X-linked; CORDX1 (Cone rod dystrophy) (RPGR 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

PulmZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
171137
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa, autosomal recessive and X-linked

Amplexa Genetics Amplexa Genetics A/S
Denmark
265
  • S Mutation scanning of the entire coding region

Cone-rod and cone dystrophy panel

Amplexa Genetics Amplexa Genetics A/S
Denmark
130
  • S Mutation scanning of the entire coding region

Results: 1 to 20 of 133

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.