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FXN Gene / Friedreich Ataxia Seq and Del/Dup
Test Code11438
CPT Codes
81406<br>This test is not available for New York patient testing<br>Restricted Client Code
Preferred Specimen
5 mL whole blood collected in EDTA (lavender-top) tube, or 1 buccal swab collected in a sterile leak-proof container, or extracted DNA
Minimum Volume
2 mL whole blood
Instructions
*New York Exemption Form Needed
Buccal Swabs: If the tinted stabilizing solution leaks out or if the transport tube is not labeled with patient name and additional ID. Buccal swabs are not accepted if the patient has ever received an allogeneic bone marrow transplant/stem cell transplant due to the potential for a high percent of donor DNA to be present. Cultured fibroblasts are required. GeneDx can provide a punch biopsy kit and can culture fibroblasts on site, as needed.
DNA: *We DO NOT accept DNA from Formalin-Fixed Paraffin-Embedded (FFPE) Tissue.*
Labeling: A minimum of two unique identifiers that match the paperwork MUST be provided on the specimen tube, such as the name/identifier of the person and date of birth. DNA concentration and volume MUST also be provided on the specimen tube.
DNA Requirements: (Acceptable Sources): DNA extracted from whole blood, buccal swab, saliva, oral rinse, fresh and frozen tissue, bone marrow, dried blood spots.
Note: 5 ug (= 5,000 ng) DNA is sufficient for any one or two GeneDx tests, regardless of methodology, with exceptions mentioned below. If testing needs to be repeated for technical reasons or if there are an unusual number of positive findings to be confirmed, 5 ug may not be sufficient.
Amount: *DNA content should be determined by Qubit or other fluorometric method with a DNA-specific dye. If using absorbance or other methods, double the amount sent.*
Diluent: For best results, DNA should be dissolved in pH 8.0 TE buffer with low EDTA (10 mM Tris, 0.1 mM EDTA).
*Excess EDTA can inhibit reactions and must be avoided.
Blood is not accepted if the patient has ever received an allogeneic bone marrow transplant/stem cell transplant. Cultured fibroblasts are required. GeneDx can provide a punch biopsy kit and can culture fibroblasts on site, as needed.
Buccal Swabs: If the tinted stabilizing solution leaks out or if the transport tube is not labeled with patient name and additional ID. Buccal swabs are not accepted if the patient has ever received an allogeneic bone marrow transplant/stem cell transplant due to the potential for a high percent of donor DNA to be present. Cultured fibroblasts are required. GeneDx can provide a punch biopsy kit and can culture fibroblasts on site, as needed.
DNA: *We DO NOT accept DNA from Formalin-Fixed Paraffin-Embedded (FFPE) Tissue.*
Labeling: A minimum of two unique identifiers that match the paperwork MUST be provided on the specimen tube, such as the name/identifier of the person and date of birth. DNA concentration and volume MUST also be provided on the specimen tube.
DNA Requirements: (Acceptable Sources): DNA extracted from whole blood, buccal swab, saliva, oral rinse, fresh and frozen tissue, bone marrow, dried blood spots.
Note: 5 ug (= 5,000 ng) DNA is sufficient for any one or two GeneDx tests, regardless of methodology, with exceptions mentioned below. If testing needs to be repeated for technical reasons or if there are an unusual number of positive findings to be confirmed, 5 ug may not be sufficient.
Amount: *DNA content should be determined by Qubit or other fluorometric method with a DNA-specific dye. If using absorbance or other methods, double the amount sent.*
Diluent: For best results, DNA should be dissolved in pH 8.0 TE buffer with low EDTA (10 mM Tris, 0.1 mM EDTA).
*Excess EDTA can inhibit reactions and must be avoided.
Blood is not accepted if the patient has ever received an allogeneic bone marrow transplant/stem cell transplant. Cultured fibroblasts are required. GeneDx can provide a punch biopsy kit and can culture fibroblasts on site, as needed.
Transport Temperature
Whole blood: Refrigerated (cold packs)
Buccal swab, Extracted DNA: Room temperature
Buccal swab, Extracted DNA: Room temperature
Specimen Stability
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Refrigerated: 7 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Blood specimens will be rejected if frozen, hemolyzed or clotted
Methodology
Next Generation Sequencing
FDA Status
This test was developed, and its performance characteristics determined by GeneDx. This test has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. The test is used for clinical purposes and should not be regarded as investigational or for research. The laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high-complexity clinical testing.
Setup Schedule
Set up: As needed; Report available: 4 weeks
Reference Range
See Laboratory Report
Clinical Significance
• Diagnostic confirmation
• Carrier testing
• Prenatal diagnosis in at risk pregnancies
• Carrier testing
• Prenatal diagnosis in at risk pregnancies
