Home
HelpTest Code EDSGG Ehlers-Danlos Syndrome Gene Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies. To modify this panel via CGPH, use the Cardiovascular/Connective Tissue/Dyslipidemia/Cerebrovascular/Primary Ciliary Dyskinesia disease state for step 1 on the Custom Gene Ordering Tool.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Necessary Information
Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.
Specimen Required
Patient Preparation: A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a hematopoietic stem cell transplant, call 800-533-1710.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Whole blood collected postnatal from an umbilical cord is also acceptable. See Additional Information
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA are met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
3. For postnatal umbilical cord whole blood specimens, maternal cell contamination studies are recommended to ensure test results reflect that of the patient tested. A maternal blood specimen is required to complete maternal cell contamination studies. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on both the cord blood and maternal blood specimens under separate order numbers.
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies:
DNA Saliva Kit High Yield (T1007)
Saliva Swab Collection Kit (T786)
Container/Tube:
Preferred: High-yield DNA saliva kit
Acceptable: Saliva swab
Specimen Volume: 1 Tube if using T1007 or 2 swabs if using T786
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days
Additional Information: Saliva specimens are acceptable but not recommended. Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.
Specimen Type: Extracted DNA
Container/Tube:
Preferred: Screw Cap Micro Tube, 2mL with skirted conical base
Acceptable: Matrix tube, 1 mL
Collection Instructions:
1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.
2. Include concentration and volume on tube.
Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated
Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). Our laboratory has experience with Chemagic, Puregene, Autopure, MagnaPure, and EZ1 extraction platforms and cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied. If applicable, specific gene regions that were unable to be interrogated due to DNA quality will be noted in the report.
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:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Connective Tissue/Cerebrovascular Disease Genetic Testing Patient Information
3. Ehlers-Danlos Syndrome Gene Panel (EDSGG) Prior Authorization Ordering Instructions
4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request Form (T724) with the specimen.
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of Ehlers-Danlos syndrome and related conditions
Establishing a diagnosis for Ehlers-Danlos syndrome, X-linked occipital horn syndrome, X-linked periventricular nodular heterotopia, and brittle cornea syndrome
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 22 genes associated with Ehlers-Danlos syndrome and related conditions: ADAMTS2, AEBP1, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, SPARC, TNXB, and ZNF469. See Targeted Genes and Methodology Details for Ehlers-Danlos Syndrome Gene Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for various forms of Ehlers-Danlos syndrome and related conditions.
Prior Authorization is available for this assay.
Special Instructions
- Informed Consent for Genetic Testing
- Informed Consent for Genetic Testing (Spanish)
- Connective Tissue/Cerebrovascular Disease Genetic Testing Patient Information
- Targeted Genes and Methodology Details for Ehlers-Danlos Syndrome Gene Panel
- Ehlers-Danlos Syndrome Gene Panel (EDSGG) Prior Authorization Ordering Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Ehlers-Danlos Syndrome Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically diverse group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. EDS has an overall estimated prevalence between 1:5000 and 1:25,000.
The classification system proposed by the International EDS Consortium identifies 13 subtypes of EDS.(1) A helpful chart delineating the various forms of EDS and their corresponding genes and recommended genetic testing strategies is provided by the Ehlers-Danlos Society on their website.(2,3)
This panel includes genes associated with autosomal dominant and autosomal recessive forms of EDS, including classical, classical-like EDS, vascular, dermatosparaxis, spondylodysplastic, musculocontractural, cardiac-valvular EDS, myopathic, and kyphoscoliotic forms.
Of note, the most common form of EDS, autosomal dominant hypermobile EDS (hEDS), does not currently have an identified genetic etiology and therefore genetic testing alone is not currently able to confirm or rule out a diagnosis of hEDS. Per the Ehlers-Danlos Society recommendations, genetic testing is useful in ruling out other heritable connective tissue disorders in individuals with suspected hEDS.(3)
Other conditions with phenotypic overlap with EDS covered by this panel include X-linked occipital horn syndrome (ATP7A gene), X-linked periventricular nodular heterotopia (FLNA gene), and brittle cornea syndrome (PRDM5 and ZNF469 genes)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(4) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Day(s) Performed
Varies
Report Available
21 to 28 daysSpecimen Retention Time
Whole blood: 28 days (if available); Saliva: 30 days (if available); Extracted DNA: 3 monthsPerforming 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. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81408 x2
81479
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| EDSGG | Ehlers-Danlos Syndrome Gene Panel | 93200-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617254 | Test Description | 62364-5 |
| 617255 | Specimen | 31208-2 |
| 617256 | Source | 31208-2 |
| 617257 | Result Summary | 50397-9 |
| 617258 | Result | 82939-0 |
| 617259 | Interpretation | 69047-9 |
| 617260 | Additional Results | 82939-0 |
| 617261 | Resources | 99622-3 |
| 617262 | Additional Information | 48767-8 |
| 617263 | Method | 85069-3 |
| 617264 | Genes Analyzed | 48018-6 |
| 617265 | Disclaimer | 62364-5 |
| 617266 | Released By | 18771-6 |
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| MATCC | Maternal Cell Contamination, B | Yes | No |