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Long QT Syndrome (LQTS) Sequencing and Deletion/Duplication Panel
Test Code10274
CPT Codes
81404, 81406 (x2), 81407, 81479<br>Limited Access Code
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
2 mL whole blood
Other Acceptable Specimens
Buccal swab collected in a sterile leak-proof container
Instructions
Informed consent and letter of medical necessity and ABN (Advance Beneficiary of Noncoverage) required
One EDTA (lavender top) tube containing 2-5 mL whole sterile blood. Several tests usually can be performed on one 3 mL blood specimen. 3-5 mL is the preferred volume for adults but 1-2 mL is acceptable for infants.
Blood - Label with the patient name plus a second identifier such as date of birth, specimen ID or medical record number. If Cord Blood, state so on both the tube and the paperwork.
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 Swab - Use the labels provided to place the patient name and date of birth on the transport tube.
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.
Whole Blood: Can be refrigerated up to 7 days before shipping. Blood specimens older than 7 days can still be shipped; they will be tested if the yield and quality of DNA permit. Ideal handling is to ship immediately at ambient temperature for overnight delivery with arrival Monday-Saturday. Specimens can be refrigerated for 7 days before shipping. In hot weather a cool pack can be enclosed.
Buccal Swab: Specimens may be held at room temperature before overnight shipping for up to 1 week (preferred) or up to 60 days (manufacturer’s limit). Use the FedEx Clinical Pak provided. Ship overnight for arrival Monday-Saturday.
One EDTA (lavender top) tube containing 2-5 mL whole sterile blood. Several tests usually can be performed on one 3 mL blood specimen. 3-5 mL is the preferred volume for adults but 1-2 mL is acceptable for infants.
Blood - Label with the patient name plus a second identifier such as date of birth, specimen ID or medical record number. If Cord Blood, state so on both the tube and the paperwork.
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 Swab - Use the labels provided to place the patient name and date of birth on the transport tube.
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.
Whole Blood: Can be refrigerated up to 7 days before shipping. Blood specimens older than 7 days can still be shipped; they will be tested if the yield and quality of DNA permit. Ideal handling is to ship immediately at ambient temperature for overnight delivery with arrival Monday-Saturday. Specimens can be refrigerated for 7 days before shipping. In hot weather a cool pack can be enclosed.
Buccal Swab: Specimens may be held at room temperature before overnight shipping for up to 1 week (preferred) or up to 60 days (manufacturer’s limit). Use the FedEx Clinical Pak provided. Ship overnight for arrival Monday-Saturday.
Transport Temperature
Whole blood: Refrigerated
Buccal swab: Room temperature
Buccal swab: Room temperature
Specimen Stability
Whole blood
Room temperature: 24 hours
Refrigerated: 7 days
Frozen: Unacceptable
Buccal swab
Room temperature: 7 days
Refrigerated: Unacceptable
Frozen: Unacceptable
Room temperature: 24 hours
Refrigerated: 7 days
Frozen: Unacceptable
Buccal swab
Room temperature: 7 days
Refrigerated: Unacceptable
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Blood specimens will be rejected if frozen, hemolyzed or clotted
Buccal Swabs - Samples will be rejected if the tinted stabilizing solution leaks out or if the transport tube is not labeled with patient name and additional ID
Buccal Swabs - Samples will be rejected if the tinted stabilizing solution leaks out or if the transport tube is not labeled with patient name and additional ID
Methodology
Next Generation Sequencing
FDA Status
This test was developed and its performance characteristics determined by GeneDx. It has not been cleared or approved by the U.S. Food and Drug Administration. The laboratory is regulated under CLIA as qualified to perform high-complexity testing. This test is used for clinical purposes. It should not be regarded as investigational or for research.
Setup Schedule
Set up: Varies; Report available: 4 weeks
Reference Range
See Laboratory Report
Clinical Significance
Confirmation of a clinical diagnosis in symptomatic patients
-Risk assessment for asymptomatic family members of a proband with LQTS
-Differentiation of hereditary LQTS from acquired (non-genetic) causes of LQTS
-Prenatal diagnosis in families with a known pathogenic variant
-Risk assessment for asymptomatic family members of a proband with LQTS
-Differentiation of hereditary LQTS from acquired (non-genetic) causes of LQTS
-Prenatal diagnosis in families with a known pathogenic variant
