Heterozygous pathogenic variants in INSR have been described in patients with type A insulin resistance, an extreme form of insulin resistance characterized by hyperinsulinemia, acanthosis nigricans, and signs of hyperandrogenism in normal weight females without lipodystrophy. Biallelic pathogenic variants in INSR have been associated with Donohue syndrome and Rabson-Medenhall syndrome, which are severe insulin resistance disorders characterized by intrauterine and postnatal growth retardation, facial dysmorphism, lack of subcutaneous fat, hyperinsulinemia, acanthosis nigricans and reduced life expectancy. This panel includes sequence and deletion/duplication analysis of the INSR gene. 

Institutional Price 
$1,000.00
TAT 
4 weeks
CPT Code 
81479
Test Code 
2163
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Genes