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HelpTest ID EDSGP Ehlers-Danlos Syndrome Panel (12 Genes), Next-Generation Sequencing and Deletion/Duplication Analysis, Varies
Ordering Guidance
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
1. Marfan and Related Disorders Patient Information (T636) is strongly recommended, but not required, to be filled out and sent with the specimen. This information aids in providing a more thorough interpretation of test results. Ordering providers are strongly encouraged to complete the form and send it with the specimen.
2. Include physician name and phone number with specimen.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 14 days
Specimen Type: Extracted DNA
Container/Tube: 2 mL screw top tube
Specimen Volume: 100 mcL (microliters)
Collection Instructions:
1. The preferred volume is 100 mcL at a concentration of 250 ng/mcL.
2. Include concentration and volume on tube.
Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Marfan and Related Disorders Patient Information (T636) is recommended, see Special Instructions
Useful For
Confirmation of a clinical diagnosis of Ehlers-Danlos Syndrome (EDS)
Differentiating between the different subtypes of EDS for diagnosis and management purposes
Ascertaining carrier status of family members of individuals diagnosed with EDS for genetic counseling purposes
Genetics Test Information
This test includes next-generation sequencing with deletion/duplication (copy number variation) analysis and supplemental Sanger sequencing to evaluate for variants in the ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, PLOD1, and SLC39A13 genes.
Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.
Special Instructions
Method Name
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing or qPCR if needed
Reporting Name
Ehlers-Danlos Syndrome Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
Whole blood: 1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday
Report Available
2 to 4 weeksPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81479
81408 x 2
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| EDSGP | Ehlers-Danlos Syndrome Gene Panel | 93200-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 601731 | Gene(s) Evaluated | 48018-6 |
| 601732 | Result Summary | 47997-2 |
| 601733 | Result Details | 82939-0 |
| 601734 | Interpretation | 69047-9 |
| 601735 | Additional Information | 48767-8 |
| 601736 | Method | 85069-3 |
| 601737 | Disclaimer | 62364-5 |
| 601738 | Reviewed By | 18771-6 |