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Noonan/Comp RASopathies Panel, Seq and Del/Dup
Test Code11442
CPT Codes
81442<br>Restricted Client Code
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube, or 5 mL whole blood from a Newborn in EDTA (lavender-top) tube, or 1 buccal swab submitted in a sterile leak-proof container, or extracted DNA
Minimum Volume
3 mL whole blood • 2 mL newborn whole blood • 1 buccal swab
Instructions
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.*
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: Tests for which buccal swabs are not accepted include GenomeSeqDx, XomeDx®Insights, XomeDxXpress®, and Congenital Sideroblastic Anemia. Multiple permitted tests can be ordered on one swab but the DNA yield is limited and additional specimens may be needed to complete testing. For more information email zebras@genedx.com.
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 Requirements: (Acceptable Sources): DNA extracted from whole blood, buccal swab, saliva, oral rinse, fresh and frozen tissue, bone marrow, dried blood spots.
Amount: 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.
*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.*
Amount Exceptions: For domestic samples, refer to the DNA Amount Exceptions table below for list of single gene tests that require a minimum of 8 ug of DNA.
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.*
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: *We DO NOT accept DNA from Formalin-Fixed Paraffin-Embedded (FFPE) Tissue.*
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: Tests for which buccal swabs are not accepted include GenomeSeqDx, XomeDx®Insights, XomeDxXpress®, and Congenital Sideroblastic Anemia. Multiple permitted tests can be ordered on one swab but the DNA yield is limited and additional specimens may be needed to complete testing. For more information email zebras@genedx.com.
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 Requirements: (Acceptable Sources): DNA extracted from whole blood, buccal swab, saliva, oral rinse, fresh and frozen tissue, bone marrow, dried blood spots.
Amount: 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.
*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.*
Amount Exceptions: For domestic samples, refer to the DNA Amount Exceptions table below for list of single gene tests that require a minimum of 8 ug of DNA.
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.*
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.
Transport Temperature
Whole blood: Refrigerated (cold packs)
Buccal swab, Extracted DNA: Room temperature
Buccal swab, Extracted DNA: Room temperature
Specimen Stability
Whole blood
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Buccal swab
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Extracted DNA
Room temperature: Indefinitely
Refrigerated: Indefinitely
Frozen: Indefinitely
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Buccal swab
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Extracted DNA
Room temperature: Indefinitely
Refrigerated: Indefinitely
Frozen: Indefinitely
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
Negative
Clinical Significance
• Diagnosis in a patient based on clinical diagnosis
• Diagnosis for known familial pathogenic variant(s)
• Distinguish between causes and forms of RASopathies and disorders with phenotypically similar clinical presentations
• Genetic counseling, especially regarding recurrence risk
• Diagnosis for known familial pathogenic variant(s)
• Distinguish between causes and forms of RASopathies and disorders with phenotypically similar clinical presentations
• Genetic counseling, especially regarding recurrence risk
