GTR Home > Tests > Fructose-1,6-bisphosphatase deficiency


Test order codeHelp: 392

Test name


Fructose-1,6-bisphosphatase deficiency

Purpose of the test


This is a clinical test intended for Help: Diagnosis



1 condition tested. Click Indication tab for more information.

How to order


Order URL Help:

Specimen source

Amniotic fluid
Bone marrow
Buccal swab
Dried blood spot (DBS) card
Fetal blood
Fresh tissue
Frozen tissue
Isolated DNA
Paraffin block
Peripheral (whole) blood


Molecular Genetics
DDeletion/duplication analysis
PCR with allele specific hybridization
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 gene and variant. Click Methodology tab for more information.


  • Gene: FBP1 (9q22.32)

Clinical utility


Avoidance of invasive testing

  • The gene test for this gene will lead to an improved health outcome in affected patients. The test can provide information about diagnosis, and support the treatment, management, or prevention of a disease. This gene test also supports following issues: the effectiveness of available interventions for individuals at increased risk, social consequences of genetic information, economic implications of genetic testing and follow-up of the patients.

Clinical validity


Number of mutation were so far reported as causing mutation for this disease. More than dozen mutation were reported and majority of identified mutation are missense/nonsense, that can be identified with 99,9% specificity using standard sequencing at Centogene. Gene test for this gene could support precise diagnosis of the disease in majority of affected patients with family history, as well as number of sporadic patients with particular symptomatology.


Not provided

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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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