Familial Hyperinsulinism
GTR Test Accession: Help GTR000591215.4
INHERITED DISEASEDIGESTIVE SYSTEMENDOCRINOLOGY ... View more
Last updated in GTR: 2023-07-03
Last annual review date for the lab: 2023-07-07 LinkOut
At a Glance
Diagnosis; Screening
Familial hyperinsulinism
Genes (1): Help
ABCC8 (11p15.1)
Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
The familial hyperinsulinism (FH) test offers molecular detection of two …
Not provided
Not provided
Ordering Information
Offered by: Help
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
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
http://www.questdiagnostics.com/

This test is also included the following carrier panel:
QHerit expanded carrier screening panel-test code 94372

fetal samples: please call GeneInfo at 866.436.3463 to discuss case with a Quest genetic counselor
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
http://www.questdiagnostics.com/
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Target population: Help
The familial hyperinsulinism (FH) test offers molecular detection of two common pathogenic variants in the ABCC8 gene, IVS32-9G>A (c.3989-9G>A) and F1387del (c.4160_4162delTCT), which account for approximately 90% of Ashkenazi-Jewish FH pathogenic variants. FH is an autosomal recessive disorder characterized by an inability to suppress insulin production that results in hypoglycemia … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Not applicable

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
analytical validity = 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Method used for proficiency testing: Help
Alternative Assessment
VUS:
Laboratory's policy on reporting novel variations Help
Not applicable
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.