Description:

The deficiency of acid lipase results in Wolman disease. The milder variation of this disease is referred to as cholesterol ester storage disease. This assay protocol utilizes a natural substrate, ¹⁴C-glycerol trioleate. After incubation, the substrate is separated from the product by chloroform extraction.

Specimen Requirements:

The assay may be performed on white blood cells, liver or fibroblasts. For white blood cells, draw 7-10 ml in a yellow top (ACD) tube and ship to us on wet ice in an insulated container by overnight express. Sample must arrive at our location within 48 hrs. For fibroblasts, send two T25 flasks of confluent cells in an insulated container by overnight carrier. If liver is to be used it must be rapidly frozen following collection. Do not add any liquid to the specimen. Send >10 mg of tissue on dry ice by overnight carrier. Contact the laboratory for information regarding prenatal diagnosis studies.

Normal Range:

Skin Fibroblasts: 100-290 pmol/min/mg protein
White Blood Cells: 55-600 pmol/min/mg protein

Turnaround Time:

Amniotic Cell Culture, Cultured Chorionic Villus Cells: 3 weeks
Liver, White Blood Cells: 2 weeks
Skin fibroblasts assays are growth dependent

CPT Codes and Prices:

Amniotic Cell Culture: 82658x2, 88235x4, 84155x2, 88240x2, 83912x2, 83901x8, 83894x8, 83891x2
Cultured Chorionic Villus Cells: 82658x2, 88235x4, 88240x2, 84155x2, 83912x2, 83901x8, 83894x8, 83891x2
Liver: 82658, 84155
Skin Fibroblast Culture: 82658, 84155, 88233, 88240
White Blood Cells:82658, 84155

Shipping Information

Forms:

>> Biochemical Requisition
>> Biochemical Prenatal Consent
>> Prenatal Requisition

Test Codes:

Amniotic Cell Culture: 4500
Cultured Chorionic Villus Cells: 4501
Liver: 4502
Skin Fibroblast Culture: 4503
White Blood Cells: 4504

Medical Genetics Laboratories
Baylor College of Medicine · Houston, TX 77030
Phone: 1-800-411-GENE · Fax: 713-798-6584
E-mail: