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Results: 1 to 20 of 141

Tests names and labsConditionsGenes, analytes, and microbesMethods

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
288218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity® Hearing Loss Disorders Analysis

Variantyx, Inc.
United States
1318
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

AudioloGene Hearing Loss Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1200
  • 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

COL9A1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • 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

Connective Tissue and Related Disorder Panel

Centogene AG - the Rare Disease Company
Germany
7576
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoHear Panel

Centogene AG - the Rare Disease Company
Germany
203194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication analysis

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 Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Invitae Stickler Syndrome Panel

Invitae
United States
329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multiple epiphyseal dysplasia (MED) NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
87
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cleft lip, cleft palate and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cleft lip, cleft palate and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
314
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple epiphyseal dysplasia (MED) Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cleft lip, cleft palate and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 141

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.