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Results: 1 to 20 of 156

Tests names and labsConditionsGenes, analytes, and microbesMethods

Connexin 30

Center for Genetics at Saint Francis Saint Francis Hospital
United States
21
  • T Targeted variant analysis

GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

Molecular Genetics Laboratory London Health Sciences Centre
Canada
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

Molecular Genetics Laboratory London Health Sciences Centre
Canada
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GJB6 Gene Deafness, autosomal dominant type 3B NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

GJB6 Gene Deafness, autosomal recessive type 1B NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
287218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sensorineural hearing loss, connexin 26 and 30 (GJB2 and GJB6 genes)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
12
  • X Mutation scanning of select exons
  • T Targeted variant analysis

NewbornGeneID

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

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
122128
  • E Sequence analysis of select exons

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

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

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GJB6 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • 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

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Ichthyosis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
7745
  • D Deletion/duplication analysis

Results: 1 to 20 of 156

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.