Classic view of this page
Level 2: Expanded Congenital Hyperinsulinism Panel
Clinical Genetic Test
Help
offered by
Genetic Diagnostic Laboratory
View lab's test page
LinkOut
GTR Test Accession: Help GTR000530439.4
INHERITED DISEASEDIGESTIVE SYSTEMENDOCRINOLOGY ... View more
Last updated in GTR: 2024-05-30
View version history
Last annual review date for the lab: 2024-05-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Predictive; ...
Conditions (7): Help
Familial hyperinsulinism; Exercise-induced hyperinsulinism; Hyperinsulinemic hypoglycemia, familial, 1 more...
Genes (6): Help
ABCC8 (11p15.1); GCK (7p13); GLUD1 (10q23.2); HADH (4q25); KCNJ11 (11p15.1) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: High Resolution aCGH; ...
Target population: Help
Individuals with congenital hyperinsulinism.
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genetic Diagnostic Laboratory
View lab's website
View lab's test page
Test short name: Help
L2: Expanded HI Panel
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Saliva
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Physician
  • Nurse Practitioner
  • Out-of-State Patients
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
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
Submit test-specific paperwork with sample. Specimen requirements and shipping instructions can be found on our webpage.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
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:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 7
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 6
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
High Resolution aCGH
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
IonTorrent PGM
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Predictive; Prognostic; Risk Assessment
Target population: Help
Individuals with congenital hyperinsulinism.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Our variant classification system is based on the American College of Medical Genetics and Genomics guidelines (Genet Med. 2015 May;17(5):405-24). This includes evaluating the variant using in gene-specific mutation databases, ExAC, dbSNP, and 1,000 genomes, and software (SIFT, PolyPhen).

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. Free testing for VUS in family members is offered on a case by case basis; information will be collected by the lab to see which family members are available and if their results will help assess for the significance of the variant.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Ordering physician will be notified by mail or email with updated information for variant.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Approximately 90% of individuals affected by diazoxide-unresponsive HI will have an identifiable mutation in ABCC8, KCNJ11 and GCK. About 40% of individuals with diazoxide responsive HI will have an identifiable mutation in the nineteen genes included on the Level 2: Expanded Congenital Hyperinsulinism panel.
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
SIFT, PolyPhen

Laboratory's policy on reporting novel variations Help
Novel variations will be reported with added interpretation based on variant type and in the context of known mutations for the specific gene.
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
Category: FDA exercises enforcement discretion
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.