Description:

The deficiency of steroid sulfatase results in the clinical disease, X-linked ichthyosis. This protocol uses a natural substrate, dehydroepandrosterone sulfate. Enzyme activity is determined by measuring the release of dehydroepiandrosterone. This protocol is not used for carrier detection.

Specimen Requirements:

The assay is performed on white blood cells and cultured skin 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. Contact the laboratory for information regarding prenatal diagnosis studies.

Normal Range:

Skin Fibroblasts: 1.5 ­ 6.0 nmol/hr/mg protein
White Blood Cells: 2 - 9.3 nmol/hr/mg protein

Turnaround Time:

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

CPT Codes and Prices:

Amniotic Cell Culture: 82658x2, 84155x2, 88235x4, 88240x2, 83891x2, 83894x8, 83901x8, 83912x2
Cultured Chorionic Villus Cells: 82658x2, 84155x2, 88235x4, 88240x2, 83891x2, 83894x8, 83901x8, 83912x2
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: 4613
Cultured Chorionic Villus Cells: 4630
Skin Fibroblast Culture: 4614
White Blood Cells:4615

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