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Results: 21 to 33 of 33

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hearing Loss Test

GeneDx
United States
56150
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Stickler Syndrome Sequencing and Del/Dup Panel

GeneDx
United States
76
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rest of Heritable Disorders of Connective Tissue after Marfan/TAAD Sequencing and Del/Dup Panel

GeneDx
United States
1531
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Custom Cardiology Sequencing and Del/Dup Panel

GeneDx
United States
30270
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Stickler syndrome

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
54
  • C Sequence analysis of the entire coding region

STICKLER SYNDROME (AUTOSOMAL RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
33
  • C Sequence analysis of the entire coding region

Stickler Syndrome Panel

Blueprint Genetics
Finland
18
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss and Deafness Panel

Blueprint Genetics
Finland
8179
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromic Hearing Loss Panel

Blueprint Genetics
Finland
686
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS panel - Stickler syndrome and related disorders

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
78
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

Stickler Syndrome Panel

CeGaT GmbH
Germany
65
  • C Sequence analysis of the entire coding region

Stickler Syndrome Panel

CeGaT GmbH
Germany
65
  • C Sequence analysis of the entire coding region

COL2A1 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
181
  • E Sequence analysis of select exons

Results: 21 to 33 of 33

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.