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HelpTest ID EDSGP Ehlers-Danlos Syndrome Panel (12 Genes), Next-Generation Sequencing and Deletion/Duplication Analysis, Varies
Advisory Information
-KVAR1 / Known Variant Analysis-1 Variant, Varies
-KVAR2 / Known Variant Analysis-2 Variants, Varies
-KVAR3 / Known Variant Analysis-3+ Variants, Varies
Call 800-533-1710 to confirm the appropriate test for targeted testing.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Include physician name and phone number with specimen.
Specimen Required
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.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 14 days
Specimen Type: 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) in 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 |
|---|---|---|
| Varies | Varies | |
Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Wednesday; Varies
Performing 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 U.S. Food and Drug Administration.CPT Code Information
81479
81408 x 2
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| EDSGP | Ehlers-Danlos Syndrome Gene Panel | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 601731 | Gene(s) Evaluated | 36908-2 |
| 601732 | Result Summary | 50397-9 |
| 601733 | Result Details | 82939-0 |
| 601734 | Interpretation | 69047-9 |
| 601735 | Additional Information | 48767-8 |
| 601736 | Method | 49549-9 |
| 601737 | Disclaimer | 62364-5 |
| 601738 | Reviewed By | 18771-6 |