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.
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
Specimen preferred to arrive within 96 hours of collection.
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 bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient 30 days
Additional Information: Due to lower concentration of DNA yielded from saliva, it is possible that additional specimen may be required to complete testing.
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.
Secondary ID
617253Useful 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
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
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| 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 is provided by the Ehlers-Danlos Society.(2)
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, hypermobile EDS is inherited in an autosomal dominant inheritance pattern, however, the molecular basis of this condition is unknown, and a diagnosis is based on clinical criteria.
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.(3) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Method Description
Next-generation sequencing (NGS) and Sanger sequencing are performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated to be over 99% for single nucleotide variants, over 94% for deletion-insertions (delins) less than 40 base pairs (bp), and over 95% for deletions up to 75 bp and insertions up to 47 bp. NGS and/or a polymerase chain reaction-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.
There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. See Targeted Genes and Methodology Details for Ehlers-Danlos Syndrome Gene Panel for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered.(Unpublished Mayo method)
Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.
Genes analyzed:
ADAMTS2, AEBP1, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, SPARC, TNXB, and ZNF469
Day(s) Performed
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. 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 |
Prior Authorization
Insurance preauthorization is available for this testing; forms are available.
Patient financial assistance may be available to those who qualify. Patients who receive a bill from Mayo Clinic Laboratories will receive information on eligibility and how to apply.