Ehlers-Danlos Syndromes (EDS) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10383 ABCC6 81479,81479 Order Options and Pricing
ACTA2 81405,81479
ADAMTS2 81479,81479
ADAMTSL2 81479,81479
AEBP1 81479,81479
ALDH18A1 81479,81479
ATP6AP1 81479,81479
ATP6V0A2 81479,81479
ATP6V1A 81479,81479
ATP6V1E1 81479,81479
ATP7A 81479,81479
B3GALT6 81479,81479
B3GAT3 81479,81479
B4GALT7 81479,81479
BGN 81479,81479
C1R 81479,81479
C1S 81479,81479
CBS 81406,81479
CHST14 81479,81479
CHST3 81479,81479
COL11A1 81479,81479
COL12A1 81479,81479
COL1A1 81408,81479
COL1A2 81408,81479
COL2A1 81479,81479
COL3A1 81479,81479
COL5A1 81479,81479
COL5A2 81479,81479
COL6A2 81407,81406
COL6A3 81407,81479
CRTAP 81479,81479
DSE 81479,81479
EFEMP2 81479,81479
ELN 81479,81479
FBLN5 81479,81479
FBN1 81408,81479
FBN2 81479,81479
FKBP14 81479,81479
FLNA 81479,81479
FLNB 81479,81479
GGCX 81479,81479
GORAB 81479,81479
LOX 81479,81479
LTBP4 81479,81479
LZTS1 81479,81479
P3H1 81479,81479
PLOD1 81479,81479
PLP1 81405,81404
PRDM5 81479,81479
PYCR1 81479,81479
RIN2 81479,81479
ROBO3 81479,81479
SKI 81479,81479
SLC39A13 81479,81479
SMAD2 81479,81479
SMAD3 81479,81479
SPARC 81479,81479
TGFB2 81479,81479
TGFB3 81479,81479
TGFBR1 81405,81479
TGFBR2 81405,81479
TNFRSF1A 81479,81479
TNXB 81479,81479
ZNF469 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10383Genes x (64)81479 81404, 81405, 81406, 81407, 81408, 81479 $1340 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders. These disorders are multisystemic and variable in nature; however they mainly affect the skin, joints, ligaments, blood vessels, and internal organs (Byers and Murray. 2012. PubMed ID: 23154631). There are several distinct subtypes of EDS that reflect separate etiologies rather than variable expressions of one disorder (Byers and Murray. 2012. PubMed ID: 23154631). The major features common among the more prevalent types of EDS include joint hypermobility, skin extensibility, abnormal scarring, and tissue friability (Byers and Murray. 2012. PubMed ID: 23154631). The clinical features of the rare forms of EDS may also include joint contractures, generalized hypotonia, scoliosis, blue sclera, or hearing loss (Brady et al. 2017. PubMed ID: 28306225). The signs and symptoms of EDS may become apparent during childhood. However, the age of diagnosis may vary depending upon the form and severity.

Combined, the prevalence of EDS is estimated to be ~1 in 5,000 individuals worldwide (Vanakker et al. 2015. PubMed ID: 26002060). However, it is difficult to determine the exact prevalence of EDS as those with mild clinical features may be undiagnosed. The hypermobile, classic, and vascular forms of EDS are the most common. The hypermobile type may affect as many as ~1 in 5,000 to 20,000 individuals (Levy and Levy. 1993. PubMed ID: 20301456). The classic type occurs in ~1 in 20,000 to 40,000 individuals (Malfait et al. 1993. PubMed ID: 20301422). The vascular form is estimated to affect ~1 in 50,000-1 in 200,000 individuals (Byers et al. 2017. PubMed ID: 28306228). The other forms of EDS are rare and only have a few cases or affected families described in literature (Brady et al. 2017. PubMed ID: 28306225).

The advantages of genetic testing include providing a prognosis for patients, personalized treatment and management plans, and allowing for reproductive planning (Sobey. 2015. PubMed ID: 24994860). There are numerous differential diagnoses for EDS, including, but not limited to, Loeys-Dietz syndrome, Cutis Laxa, Marfan syndrome, Osteogenesis imperfecta, Ullrich congenital muscular dystrophy, and Brittle cornea syndrome (Sobey. 2015. PubMed ID: 24994860; Vanakker et al. 2015. PubMed ID: 26002060).

Genetics

This test includes genes identified through literature, OMIM, and HGMD searches that have a reported association with EDS or may be considered a differential diagnosis of EDS.

EDS is a genetically heterogeneous group of disorders. Disorders may be inherited in an autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL) manner, or may arise de novo. Causative variants may include missense, nonsense, splicing, regulatory, or copy number alterations.

See individual gene summaries for information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the genetic heterogeneity of the disorders tested in this panel, the clinical sensitivity of this specific grouping of genes is difficult to estimate. Clinical sensitivity varies depending on the disorder.

The underlying genetic etiology for hypermobile EDS remains elusive, therefore the clinical sensitivity is unknown (Levy and Levy. 1993. PubMed ID: 20301456; Forghani. 2019. PubMed ID: 30063214). Three studies have analyzed the clinical efficacy of classic EDS and identified a causative variant in the COL5A1 or COL5A2 gene in 52-93% of their cohort members (Malfait et al. 2005. PubMed ID: 15580559; Symoens et al. 2012. PubMed ID: 22696272; Ritelli et al. 2013. PubMed ID: 23587214). Another study analyzed individuals with a clinical presentation of vascular EDS and identified a causative variant in COL3A1 in ~90% of the cohort (Pepin et al. 2014. PubMed ID: 24922459). The other types of EDS included in this panel are rare causes of EDS with unknown clinical sensitivity. In addition, the clinical sensitivity is unknown for individuals with borderline or non-specific connective tissue disease.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 98.2% coverage of all coding exons of the genes listed, plus ~10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Of note, TNXB exons 32-44 are not analyzed due to multiple close copies of these sequences in the genome. If full coverage of TNXB is desired, we can offer an enhancement of the gene for an additional $530.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Candidates for this test are individuals with clinical features of Ehlers-Danlos syndrome or an Ehlers-Danlos syndrome related condition. In addition, testing is recommended for those with a family history of Ehlers-Danlos syndrome or a related condition.

Diseases

Name Inheritance OMIM ID
Achondrogenesis Type 2 AD 200610
Acromicric Dysplasia AD 102370
Aortic Aneurysm, Familial Thoracic 10 AD 617168
Aortic Aneurysm, Familial Thoracic 6 AD 611788
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 AD 107970
Arterial Calcification, Generalized, of Infancy, 2 AR 614473
Autosomal Recessive Cutis Laxa Type 3A AR 219150
Avascular Necrosis Of Femoral Head, Primary AD 608805
Bethlem Myopathy AR 158810
Bethlem Myopathy AR 158810
Bethlem Myopathy 2 AD 616471
Brittle Cornea Syndrome 1 AR 229200
Brittle Cornea Syndrome 2 AR 614170
Congenital Contractural Arachnodactyly AD 121050
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities AR 613177
Cutis Laxa, Autosomal Dominant AD 123700
Cutis Laxa, Autosomal Dominant 2 AD 614434
Cutis Laxa, Autosomal Dominant 3 AD 616603
Cutis Laxa, Autosomal Recessive, Type IA AR 219100
Cutis Laxa, Autosomal Recessive, Type IB AR 614437
Cutis Laxa, Autosomal Recessive, Type IIA AR 219200
Cutis Laxa, Autosomal Recessive, Type IIB AR 612940
Cutis Laxa, Autosomal Recessive, Type IIC AR 617402
Cutis Laxa, Autosomal Recessive, Type IID AR 617403
Czech Dysplasia Metatarsal Type AD 609162
Deafness, autosomal dominant 37 AD 618533
Dystonia 27 AR 616411
Ectopia Lentis, Isolated, Autosomal Dominant AD 129600
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss AR 614557
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies AR 130070
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form AR 225320
Ehlers-Danlos Syndrome, Classic Like, 2 AR 618000
Ehlers-Danlos Syndrome, Hydroxylysine-Deficient AR 225400
Ehlers-Danlos Syndrome, Musculocontractural Type AR 601776
Ehlers-Danlos Syndrome, Musculocontractural Type 2 AR 615539
Ehlers-Danlos Syndrome, Periodontal Type, 2 AD 617174
Ehlers-Danlos Syndrome, Progeroid Type, 2 AR 615349
Ehlers-Danlos Syndrome, Type 1 AD 130000
Ehlers-Danlos Syndrome, Type 4 AD 130050
Ehlers-Danlos Syndrome, Type VIIA and VIIB AD 130060
Ehlers-Danlos Syndrome, Type VIIC AR 225410
Ehlers-Danlos Syndrome, Type VIII AD 130080
Ehlers-Danlos-Like Syndrome Due To Tenascin-X Deficiency AR 606408
Epileptic Encephalopathy, Infantile or Early Childhood, 3 AD 618012
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness AD 132450
Fibrochondrogenesis AR 228520
Frontometaphyseal Dysplasia XL 305620
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis AR 607313
Geleophysic Dysplasia AR 231050
Geleophysic Dysplasia 2 AD 614185
Geroderma Osteodysplasticum AR 231070
Homocystinuria Due To Cbs Deficiency AR 236200
Immunodeficiency and Hepatopathy with Cutis Laxa XL 300972
Intervertebral Disc Disorder 603932
Kniest Dysplasia AD 156550
Larsen Syndrome, Dominant Type AD 150250
Legg-Calve-Perthes Disease AD 150600
Loeys-Dietz Syndrome 1 AD 609192
Loeys-Dietz Syndrome 2 AD 610168
Loeys-Dietz Syndrome 3 AD 613795
Loeys-Dietz Syndrome 4 AD 614816
Loeys-Dietz Syndrome 5 AD 615582
Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis AR 613075
Macular Degeneration, Early-Onset AD 616118
Marfan lipodystrophy syndrome AD 616914
Marfan Syndrome AD 154700
Marshall Syndrome AD 154780
Mass Syndrome AD 604308
Meester-Loeys syndrome XL 300989
Moyamoya Disease 5 614042
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects AR 245600
Multisystemic Smooth Muscle Dysfunction Syndrome AD 613834
Myosclerosis, Autosomal Recessive AR 255600
Occipital Horn Syndrome XL 304150
Osteoarthritis With Mild Chondrodysplasia AD 604864
Osteogenesis Imperfecta, Type VII AR 610682
Osteogenesis Imperfecta, Type VIII AR 610915
Osteogenesis Imperfecta, Type XVII AR 616507
Pelizaeus-Merzbacher Disease XL 312080
Platyspondylic Lethal Skeletal Dysplasia Torrance Type AD 151210
Pseudoxanthoma Elasticum AR 264800
Pseudoxanthoma Elasticum, Forme Fruste AD 177850
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency AR 610842
Shprintzen-Goldberg Syndrome AD 182212
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like AR 612350
Spondyloepimetaphyseal Dysplasia Strudwick Type AD 184250
Spondyloepimetaphyseal dysplasia, X-linked XL 300106
Spondyloepiphyseal Dysplasia Congenita AD 183900
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations AR 143095
Spondyloepiphyseal Sysplasia, Stanescu Type AD 616583
Spondyloperipheral Dysplasia AD 271700
Stickler Syndrome Type 1 AD 108300
Stickler Syndrome, Type 2 AD 604841
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Stiff Skin Syndrome AD 184900
Tnf Receptor-Associated Periodic Fever Syndrome (Traps) AR 142680
Ullrich Congenital Muscular Dystrophy AR 254090
Ullrich Congenital Muscular Dystrophy 2 AR 616470
Weill-Marchesani Syndrome 2 AD 608328
Wrinkly Skin Syndrome AR 278250

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We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

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  • Billing information along with specimen and shipping instructions are within the requisition form.
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For Requisition Forms, visit our Forms page


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