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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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SCID Newborn Screening Follow-up Panel
Test Details
Test Code: 4001
Test Includes: Chromosomal Microarray Analysis - HR (#8655)
Adenosine Deaminase Enzyme (ADA) (#4509)
Purine Nucleoside Phosphorylase Enzyme (PNP) (#4592)
Urine Purine Analysis (#4220)

The individual tests will be reported as they become available. Tests will be reported individually and no comprehensive summary of the testing is provided.

Special Notes: Severe combined immunodeficiency disorder (SCID), is a rare, primary immune deficiency. The defining characteristic is usually a severe defect in both the T- and B-lymphocyte systems. This usually results in the onset of one or more serious infections within the first few months of life. Newborn screening in many states now detects individuals at risk for this complex disorder, which has multiple genetic causes, not all known. The Medical Genetics Laboratories have developed a panel of tests to follow-up an abnormal newborn screening result toward determining an etiology for the abnormal screen. This panel includes urine purine panel (#4220), enzymatic analysis of purine nucleoside phosphorylase (#4592) and adenosine deaminase (#4509), and chromosome microarray analysis (#8655) for detection of deletion 22q11 (DiGeorge syndrome) and other CNVs associated with genes involved in this complex condition.

Please note that samples must be shipped overnight under 2 separate shipping conditions. Blood must be shipped at ambient temperature. Urine must be shipped frozen with dry ice.
Technical Information
Methodology: Chromosomal Microarray Analysis - HR (#8655): Microarray
Adenosine Deaminase Enzyme (ADA) (#4509): enzyme analysis in red blood cells (white blood cell (#4511) or skin fibroblasts (#4510) are also acceptable)
Purine Nucleoside Phosphorylase Enzyme (PNP) (#4592): enzyme analysis in red blood cells (white blood cells (#4594) or skin fibroblasts (#4593) are also acceptable)
Urine Purine Panel (#4220): Tandem Mass Spectrometry

See test code specific information page.
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: APPLICABLE SAMPLE TYPES - IMPORTANT INFORMATION
Requirements: Please note that sample types listed below must be shipped overnight under 2 separate shipping conditions.
Shipping Conditions: Blood must be shipped at ambient temperature. Urine must be shipped frozen with dry ice.


Specimen Type: Blood - ACD [along with Blood - Heparin and EDTA & Urine]
Requirements: Draw blood in ACD (yellow-top) tube(s) and send 3-5 cc.
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier to arrive within 36 hours of collection. Do not heat or freeze.

Specimen Type: Blood - EDTA [along with Blood - ACD and Heparin & Urine]
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 2-3 cc
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier to arrive within 36 hours of collection. Do not heat or freeze.

Specimen Type: Blood - Heparin [along with Blood - ACD and EDTA & Urine]
Requirements: Draw blood in a heparin (green-top) tube(s) and send 1-2 cc
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier to arrive within 36 hours of collection. Do not heat or freeze.

Specimen Type: Urine [along with Blood - ACD, Heparin, and EDTA]
Requirements: Send 2-4 cc of random urine. Do not add preservatives. Store the specimen frozen at -20C.
Shipping Conditions: Ship frozen on dry ice in an insulated container by overnight courier.

Turn Around Time: 7-14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81228 x 1, 82489 x 1, 82570 x 1, 82658 x 2, 83026 x 1, 83789 x 3


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