Glycogen Storage Disorders Panel, Sequencing
GTR Test Accession: Help GTR000596057.2
INHERITED DISEASEMETABOLIC DISEASEMUSCULOSKELETAL ... View more
Last updated in GTR: 2023-07-31
Last annual review date for the lab: 2023-07-17 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Glucose-6-phosphate transport defect; Carnitine palmitoyltransferase II deficiency; Danon disease; ...
ACAT1 (11q22.3), AGL (1p21.2), ALDOA (16p11.2), ALDOB (9q31.1), CPT2 (1p32.3), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
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Ordering Information
Offered by: Help
ARUP Laboratories, Molecular Genetics and Genomics
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View lab's test page
Test short name: Help
GSD NGS
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: 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.
How to Order: Help
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 40
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 32
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)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Predictive; Prognostic; Risk Assessment; Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Multiple methodologies are utilized to classify a VUS. General knowledge regarding the gene and types of disease-associated mutations is reviewed. Population frequency is used to determine the incidence in which the variant is present in the general population as well as in specific ethnicities. Computational prediction programs are used to … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. For significant changes to variant classification, an amended report is sent to the ordering facility and ARUP Laboratories will attempt to contact the provider. Clinicians are encouraged to continue to analyze the literature and re-contact the laboratory if a reclassification may be warranted.
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Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical sensitivity of sequencing is approximately 99 percent for single nucleotide variants (SNVs) and greater than 93 percent for insertions/duplications/deletions from 1-10 base pairs in size. Variants greater than 10 base pairs may be detected, but the analytical sensitivity may be reduced.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
The software utilized varies depending on the gene and variant type. Some examples of computational prediction programs ARUP Laboratories uses are SIFT, Polyphen2, Mutation Taster, NetGene and NNSplice. The evidence of pathogenicity generated by these computer prediction programs is considered weak.

Laboratory's policy on reporting novel variations Help
ARUP Laboratories complies with New York regulations for all variants reported. If a VUS is incidentally detected using a mutation panel or in an ACMG-recommended gene via exome sequencing, it will not be reported (in agreement with ACMG recommendations for standards for interpretation and reporting of sequence variations). Please see … View more
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Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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