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Results: 1 to 20 of 33 (representing 15 labs)

Tests names and labsConditionsGenes and analytesMethods

Skeletal Disorders and Joint Problems Sequencing Panel

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
300280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Peroxisomal Disorders Sequencing Panel

PreventionGenetics
United States
3222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Rhizomelic Chondrodysplasia Punctata Type 1 and Adult Refsum Disease via the PEX7 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal and peroxisomal diseases (NGS panel of 109 genes)

CGC Genetics
Portugal
117108
  • C Sequence analysis of the entire coding region

Lysosomal and peroxisomal diseases (NGS panel of 109 genes)

CGC Genetics
Portugal
117108
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
351275
  • C Sequence analysis of the entire coding region

Invitae Rhizomelic Chondrodysplasia Punctata Spectrum Panel

Invitae
United States
83
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Adult Refsum Disease Panel

Invitae
United States
62
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peroxisomal disorders

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3324
  • C Sequence analysis of the entire coding region

Refsum disease (sequence analysis of PEX7 gene)

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

Single gene testing PEX7

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Pan-Ethnic Carrier Screen: Gene Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
136147
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372287
  • C Sequence analysis of the entire coding region

PEX7

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

devACT® Next Generation Sequencing panel focused on genes that inform actionable clinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
297248
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
143141
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing Evaluation - Neuronal Migration Disorders

Athena Diagnostics Inc
United States
2929
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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.

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