Ordering RecommendationRecommendations when to order or not order the test. May include related or preferred tests.
Confirm diagnosis of inherited insulin resistance syndrome in individuals with clinical and/or biochemical evidence. For initial testing or to rule out inherited insulin resistance syndrome, refer to Insulin, Fasting (0070063) or Fasting Glucose, Plasma or Serum (0020024).
MnemonicUnique test identifier.
INSR FGS
MethodologyProcess(es) used to perform the test.
Polymerase Chain Reaction/Sequencing
PerformedDays of the week the test is performed.
Varies
ReportedExpected turnaround time for a result, beginning when ARUP has received the specimen.
14-21 days
New York DOH Approval StatusIndicates test has been approved by the New York State Department of Health.
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Reference IntervalNormal range/expected value(s) for a specific disease state. May also include abnormal ranges.
Interpretive DataBackground information for test. May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results.
Background Information for Inherited Insulin Resistance Syndromes (INSR) Sequencing: Characteristics: Extreme insulin resistance is characterized by abnormal glucose homeostasis and hyperinsulinemia, leading eventually to ketoacidosis. Donohue syndrome (leprechaunism), Rabson-Mendenhall syndrome, and Type A insulin resistance are all caused by INSR gene mutations, although severity and survival varies greatly among syndromes. Symptoms may include intrauterine growth restriction, failure to thrive after birth, characteristic dysmorphic features, lack of subcutaneous fat, acanthosis nigricans, enlargement of genitalia in males and females, cystic ovaries and amenorrhea in females, premature and dysplastic dentition, and pineal hyperplasia. Incidence: Unknown; rare. Inheritance: Autosomal recessive (Donohue and Rabson-Mendenhall syndromes). Type A insulin resistance can be autosomal recessive or dominant. Cause: Pathogenic INSR gene mutations. Clinical Sensitivity: Predicted to be greater than 90 percent in individuals with a clinical diagnosis. Methodology: Bidirectional sequencing of the entire coding region and intron/exon boundaries of the INSR gene. Analytical Sensitivity and Specificity: 99 percent. Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Mutations in genes other than INSR are not evaluated.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Compliance Category
Laboratory Developed Test (LDT)
NoteAdditional information related to the test.
Hotline History
N/A
CPT CodesThe American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
AliasesOther names that describe the test. Synonyms.
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