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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

Transaldolase deficiency, 606003, Autosomal recessive (Transaldolase deficiency) (TALDO1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Transaldolase deficiency, 606003, Autosomal recessive (Transaldolase deficiency) (TALDO1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

RPL5 Gene Diamond-Blackfan anemia type 6 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Polyols, Quantitative, Urine

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • A Analyte

TALDO1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
19592
  • D Deletion/duplication analysis

Invitae Cholestasis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
210134
  • D Deletion/duplication analysis

Cholestasis Panel

PreventionGenetics, part of Exact Sciences
United States
13069
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypoglycemia Panel

PreventionGenetics, part of Exact Sciences
United States
131115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary hepatic diseases (55 genes)

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

TRANSALDOLASE DEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

TALDO1 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Transaldolase deficiency (TALDO)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • A Analyte
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.