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Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
294481
  • C Sequence analysis of the entire coding region

Dystonia Exome

Genetic Services Laboratory University of Chicago
United States
96170
  • C Sequence analysis of the entire coding region

Malformations of cortical development panel

CGC Genetics Unilabs
Portugal
5111
  • 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

Creatine Metabolism Deficiency Panel

Blueprint Genetics
Finland
13
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Creatine Deficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
43
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy/Seizure NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
158165
  • C Sequence analysis of the entire coding region

GAMT

MGZ Medical Genetics Center
Germany
31
  • C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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.