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Glycogen Storage Disease and Gluconeogenesis Sequencing Panel
Clinical Genetic Test
Help
offered by
Dep. of Paediatrics and Inherited Metabolic Disorders
GTR Test Accession: Help GTR000561875.3
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2019-10-10
View version history
Last annual review date for the lab: 2023-10-12 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (3): Help
Essential fructosuria; Glycogen storage disease; Pyruvate carboxylase deficiency
Genes (29): Help
AGL (1p21.2), ALDOA (16p11.2), ALDOB (9q31.1), ALDOC (17q11.2), ENO3 (17p13.2), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Dep. of Paediatrics and Inherited Metabolic Disorders
View lab's website
Specimen Source: Help
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, How to Order, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 29
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
The detected variations are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations (Richards S et al. Genet Med 17, 405-424, 2015).

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Our method will identify the missense and nonsense mutations and small indels. Larger CNVs will be identified in specified genes. Our diagnostic criteria requieres: (I) at least 95% of the region of interest have over 20-fold per base coverage, (II) the regions have a mean coverage 100-120x; regions with low … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Genome Analysis Toolkit (GATK), ANNOVAR Annotation Tool

Laboratory's policy on reporting novel variations Help
All novel variations are evaluated for potential pathogenicity and included in the written report.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.