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Results: 1 to 20 of 112

Tests names and labsConditionsGenes, analytes, and microbesMethods

Connexin 26

Center for Genetics at Saint Francis Saint Francis Hospital
United States
21
  • C Sequence analysis of the entire coding region

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

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

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

GJB2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • 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

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

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening Ashkenazi Jewish Panel

Ambry Genetics
United States
5147
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • 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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • 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

Deafness, digenic, GJB2/GJB3, 220290, Autosomal recessive, Digenic dominant (Autosomal recessive non-syndromic sensorineural deafness type DFNB) (GJB3 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Deafness, digenic GJB2/GJB6, 220290, Autosomal recessive, Digenic dominant (Autosomal recessive non-syndromic sensorineural deafness type DFNB) (GJB6 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Deafness, autosomal recessive 1A, 220290, Autosomal recessive, Digenic dominant (DFNB) (GJB2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen without X-linked Disorders

Invitae
United States
19598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 112

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.