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Results: 1 to 20 of 53

Tests names and labsConditionsGenes, analytes, and microbesMethods

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

UDP-galactose 4' epimerase, RBC

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

NewbornGeneID

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

Galactitol, QN, U

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

Galactosemia Mutation Panel

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • T Targeted variant analysis

Carrier Screening Ashkenazi Jewish Panel

Ambry Genetics
United States
5148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

GALT gene sequencing

Inherited Metabolic Disease group University of Cape Town and National Health Laboratory Services
South Africa
21
  • C Sequence analysis of the entire coding region

GALT S135L

Inherited Metabolic Disease group University of Cape Town and National Health Laboratory Services
South Africa
21
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Galactosemia, Full Gene Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • C Sequence analysis of the entire coding region

GALT Gene Sequencing & Del/Dup

GeneDx
United States
11
  • D Deletion/duplication analysis
  • 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
330746
  • 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

GeneSeq PLUS, GALT

Integrated Genetics Westborough LabCorp
United States
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 53

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.