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Results: 1 to 20 of 79 (representing 30 labs)

Tests names and labsConditionsGenes and analytesMethods

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
124129
  • E Sequence analysis of select exons

Deafness, autosomal recessive type 23

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

Usher syndrome type 1D/F

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

Ashkenazi panel (advanced)

Centogene AG - the Rare Disease Company
Germany
115
  • T Targeted variant analysis

Deafness, non-syndromic sensorineural AR panel

Centogene AG - the Rare Disease Company
Germany
4443
  • 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
299280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary familial hypertriglyceridemias

Health in Code S.L.
Spain
112
  • C Sequence analysis of the entire coding region

Dyslipidemias / Early atherosclerosis

Health in Code S.L.
Spain
184
  • C Sequence analysis of the entire coding region

Cardiovascular Diseases_General Panel

Health in Code S.L.
Spain
1380
  • C Sequence analysis of the entire coding region

Usher Syndrome Sequencing Panel

PreventionGenetics
United States
1011
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PCDH15 Deletion/Duplication Analysis

Baylor Genetics
United States
31
  • D Deletion/duplication analysis

PCDH15 Comprehensive - Sequence & Deletion/Duplication Analysis

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

Usher Syndrome Panel

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
169
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OtoGenome Test for Hearing Loss (87 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
11286
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Usher Syndrome Type 1 and Deafness, Autosomal Recessive 23 (DFNB23) via the PCDH15 Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

OtoSCOPE

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
98147
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathy Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
219152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 79

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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