Alagille syndrome

This genetic disorder, also known as arteriohepatic dysplasia, is characterized by jaundice in the newborn period, liver disease with cholestasis, peripheral pulmonic stenosis and unusual facial features. Children born with Alagille syndrome usually present with jaundice at birth. Cholestasis (stagnant flow of bile from the liver) and itching then develop, stools without the usual yellowing brown color, and enlargement of the liver and spleen. Peripheral pulmonic stenosis or other types of congenital heart disease (CHD) may occur. Facial features such as deep-set eyes, broad forehead, long nose with flat tip, low-set or malformed ears and a prominent chin. The prognosis depends upon the degree of severity of the CHD and the liver disease (it can cause liver failure).

Genetically, Alagille syndrome is an autosomal dominant trait meaning that the gene is on a non-sex chromosome and a single edition of the Alagille gene is sufficient to produce the disease. The gene has been discovered on chromosome 20 in band 20p12.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 759.89

Test Requisition: 
Cytogenetics Requisition 

CPT Codes: 88230, 88271, 88274, 88291 Cost: $655.00

Turn-around-time: 7-10 days