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Lab Dept:
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Anatomic Pathology
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Test Name:
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ANIRIDIA (PAX6) COPY DX DELETION/DUPLICATION ANALYSIS
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General Information
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Lab Order Codes:
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PXCD (Blood samples only)
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Synonyms:
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Aniridia Gene Testing; Developmental Eye Disorders Gene Testing
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CPT Codes:
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83891 x2 – Isolation or extraction of highly purified nucleic acid
83892 x2 – Molecular diagnostics; enzymatic digestion
83898 x12 – Amplification of nucleic acid
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Test Includes:
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For the gene of interest, the number of copies present in the patient's sample.
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Logistics
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Test Indications:
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Aniridia is a developmental anomaly of the entire eye, characterized by varying degrees of iris hypoplasia, foveal hypoplasia, and/or nysagmus. Frequently associated findings with onset later in life include cataracts, limbal stem cell deficiency, and glaucoma.
Applications of CopyDx gene copy number analysis:
1. As a complementary test or substitute for FISH and quantitative microarray analysis when a deletion or duplication syndrome (contiguous or single gene) is suspected.
2. As a confirmation test for a genomic gain or loss identified by genome-wide microarray analysis.
3. To determine the presence or absence of a specific gene within a deleted chromosomal segment (contiguous gene deletion).
4. Diagnostic testing in a Mendelian disorder due to functional loss of one allele (haploinsufficiency), in particular when sequence analysis failed to identify a causative mutation and a whole gene deletion is a possible cause.
5. Carrier testing for deletion/duplication syndromes when the specific region is known in an affected relative.
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Lab Testing Sections:
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Anatomic Pathology - Sendouts
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Referred to:
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GeneDx, Inc. (GDX#: 904, Specify gene/mutation)
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Phone Numbers:
Minneapolis:
Saint Paul:
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612-813-6280
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651-220-6550
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Test Availability:
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Daily, 24 hours (Preferred draws are Sunday - Thursday as specimens can only be received at the reference lab Monday - Friday. Specimens collected Friday or Saturday will be held for shipment on Monday.)
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Turnaround Time:
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4 - 6 weeks
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Special Instructions:
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A signed consent form must be sent with any specimen. Forms can be obtained through the following link: http://www.genedx.com/required_forms.php
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Blood: Lavender top (EDTA) tube
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Draw Volume:
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1 - 5 mL blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture for blood specimens, invert gently to mix
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Special Processing:
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Lab Staff: Send whole blood in original collection container labeled with patient name, date of birth and medical record number, including signed consent form and requisition, with a cool pack, via overnight or second-day courier so that the sample will arrive at GeneDx, Inc. on a weekday (Monday through Friday). Samples drawn on Friday or Saturday should be held at refrigerated temperatures for shipment on Sunday. Do not freeze.
Note: Specimens may be stored at refrigerated temperatures for up to 3 days prior to shipping.
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Patient Preparation:
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None
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Sample Rejection:
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Unrefrigerated specimens older than 48 hours, clotted or hemolyzed for blood, frozen specimens, mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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Interpretive report
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Critical Values:
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N/A
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Limitations:
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N/A
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Methodology:
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Comparative quantitative analysis, fluorescent quantitative PCR-based method. Analysis done in triplicate.
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Contraindications:
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N/A
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References:
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GeneDx, Inc. Web Page www.genedx.com February 2008
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