Level 1: Congenital Hyperinsulinisim Panel
GTR Test Accession: Help GTR000530438.4
INHERITED DISEASEDIGESTIVE SYSTEMENDOCRINOLOGY ... View more
Last updated in GTR: 2024-06-04
Last annual review date for the lab: 2024-05-30 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Predictive; ...
Familial hyperinsulinism; Hyperinsulinemic hypoglycemia, familial, 1; Hyperinsulinism due to glucokinase deficiency; ...
Genes (3): Help
ABCC8 (11p15.1), GCK (7p13), KCNJ11 (11p15.1)
Molecular Genetics - Deletion/duplication analysis: RT-qPCR; ...
Individuals with congenital hyperinsulinism (HI). This test includes 3 genes …
Not provided
Not provided
Ordering Information
Offered by: Help
Genetic Diagnostic Laboratory
View lab's website
View lab's test page
Test short name: Help
L1: HI Panel
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Product of conception (POC)
  • 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
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
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 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:
Conditions Help
Total conditions: 5
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
RT-qPCR
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500XL
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500XL
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Predictive; Prognostic; Risk Assessment; Screening
Target population: Help
Individuals with congenital hyperinsulinism (HI). This test includes 3 genes associated with diazoxide unresponsive HI and has rapid turnaround time to aid in medical management.
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:
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
Assay limitations: Help
The current assay can not detect small levels of mosaicism or deep intronic mutations that can lead to aberrant splicing.
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:
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.