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Results: 1 to 20 of 63

Tests names and labsConditionsGenes, analytes, and microbesMethods

Fructose-1,6-bisphosphatase deficiency, 229700, Autosomal recessive; FBP1D (Fructose-1,6-bisphosphatase deficiency) (FBP1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Fructose-1,6-bisphosphatase deficiency, 229700, Autosomal recessive; FBP1D (Fructose-1,6-bisphosphatase deficiency) (Prenatal) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Fructose-1,6-bisphosphatase deficiency, 229700, Autosomal recessive; FBP1D (Fructose-1,6-bisphosphatase deficiency) (FBP1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Fructose-1,6-bisphosphatase deficiency, 229700, Autosomal recessive; FBP1D (Fructose-1,6-bisphosphatase deficiency) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

New Born testing (CentoICU)

Centogene AG - the Rare Disease Company
Germany
767514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

Fructose intolerance

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

Fructose-1,6-bisphosphatase deficiency

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

Invitae Hypoglycemia Panel

Invitae
United States
173119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypoglycemia Panel - Expanded

PreventionGenetics
United States
125110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FBP1 - Fructose-1,6-bisphosphatase deficiency

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Glycogen Storage Disease Panel

Invitae
United States
3728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glycogen Storage Disease Seq Analysis

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
1717
  • C Sequence analysis of the entire coding region

Glycogen Storage Disease Seq + Del/Dup Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
1717
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glycogen Storage Disease Del/Dup Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
1717
  • D Deletion/duplication analysis

Metabolic Hypoglycemia Panel

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

Invitae Organic Acidemias Panel

Invitae
United States
10897
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FBP1. Complete sequencing

IGENOMIX
Spain
11
  • C Sequence analysis of the entire coding region

Glycogen Storage Disease and Disorders of Glucose Metabolism Panel

PreventionGenetics
United States
3333
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FBP1 Comprehensive - Sequence & Deletion/Duplication Analysis

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

Results: 1 to 20 of 63

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.

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