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Results: 21 to 40 of 98

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Broad Carrier Screen

Invitae
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Galactosemia

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

Galactosemia Panel

PreventionGenetics, part of Exact Sciences
United States
34
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GALT - Galactosemia

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • 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

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
202212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Premature Ovarian Failure (POF) Panel

PreventionGenetics, part of Exact Sciences
United States
1921
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) and Infertility Panel

PreventionGenetics, part of Exact Sciences
United States
223238
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Female Infertility Panel

PreventionGenetics, part of Exact Sciences
United States
96105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metabolic Hypoglycemia Panel

PreventionGenetics, part of Exact Sciences
United States
3838
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Metabolic Newborn Screening Confirmation Panel

Invitae
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Galactosemia Panel

Invitae
United States
97
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Galactosemia Type I (Classic and Variant Galactosemia) via the GALT Gene, 5.5 kb Common Deletion

PreventionGenetics, part of Exact Sciences
United States
11
  • T Targeted variant analysis

GALT Prenatal Sequence Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

GALT Sequence and Deletion/Duplication Analysis

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

GALT Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region

GALT Familial Mutation/Variant Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

GALT Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

Results: 21 to 40 of 98

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.