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Results: 1 to 19 of 19 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

Branchiootorenal Syndrome NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Cataracts NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
4340
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

OtoGenome Test for Hearing Loss (87 Genes)

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

EYA1 Del/Dup Test (MLPA) 

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
21
  • D Deletion/duplication analysis

EYA1 Gene Sequencing

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
21
  • C Sequence analysis of the entire coding region

Branchiootorenal syndrome via the EYA1 Gene

PreventionGenetics
United States
11
  • 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

Invitae Branchiootorenal Spectrum Disorders Panel

Invitae
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS Hearing Loss Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11091
  • C Sequence analysis of the entire coding region

Branchiootorenal Spectrum Disorder Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
33
  • D Deletion/duplication analysis

Syndromic and non syndromic deafness (NGS panel for 127 genes)

CGC Genetics
Portugal
118127
  • C Sequence analysis of the entire coding region

Syndromic deafness (NGS panel for 62 genes)

CGC Genetics
Portugal
5662
  • C Sequence analysis of the entire coding region

EYA1

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

Hearing Loss: Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
15992
  • C Sequence analysis of the entire coding region

Hearing Loss NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
202103
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EYA1

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
11
  • C Sequence analysis of the entire coding region

Branchiootorenal Spectrum Disorder Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
53
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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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