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Results: 1 to 16 of 16

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

NewbornGeneID

GeneID Lab - Advanced Molecular Diagnostics
United States
7361
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GJB3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Ichthyosis Panel

Invitae
United States
7745
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

Deafness, autosomal dominant 2B, 612644, Autosomal dominant (Autosomal dominant non-syndromic sensorineural deafness type DFNA) (MLPA)

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

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
360222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Deafness, Autosomal Dominant 2B (DFNA2B) via the GJB3 Gene

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

GJB3 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • D Deletion/duplication analysis

Comprehensive Hearing Loss NGS Panel

Fulgent Genetics
United States
332167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ichthyosis NGS Panel

Fulgent Genetics
United States
9843
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nonsyndromic Hearing Loss NGS Panel

Fulgent Genetics
United States
14699
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hearing Loss Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
249184
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT)

Laboratorio de Genetica Clinica SL
Spain
1010
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

GJB3 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.