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Results: 1 to 20 of 28

Tests names and labsConditionsGenes, analytes, and microbesMethods

Meckel Gruber Syndrome Panel

Genetic Services Laboratory University of Chicago
United States
1616
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert/Meckel-Gruber syndrome Panel

Genetic Services Laboratory University of Chicago
United States
3441
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MKS1-Related Disorders

Myriad Genetics, Inc.
United States
21
  • C Sequence analysis of the entire coding region

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Inheritest 300 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
172350
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Inheritest 500 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Inheritest High Frequency panel

Integrated Genetics Westborough LabCorp
United States
109110
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Inheritest 100 PLUS panel

Integrated Genetics Westborough LabCorp
United States
115142
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Comprehensive Brain Malformations Panel

GeneDx
United States
19103
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

Hereditary hepatic diseases (55 genes)

Center for Human Genetics Cliniques Universitaires Saint Luc
Belgium
3655
  • C Sequence analysis of the entire coding region

Meckel Syndrome Panel

Blueprint Genetics
Finland
213
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathy Panel

Blueprint Genetics
Finland
699
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathies

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
4493
  • C Sequence analysis of the entire coding region

TMTC3 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EXOC4 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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.