Connective Tissue Disorders Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
7947 ABCC6 81479,81479 Order Options and Pricing
ACTA2 81405,81479
ADAMTS2 81479,81479
ADAMTSL2 81479,81479
AEBP1 81479,81479
ALDH18A1 81479,81479
ALPL 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
BPNT2 81479,81479
C1R 81479,81479
C1S 81479,81479
CBS 81406,81479
CHD4 81479,81479
CHST14 81479,81479
CHST3 81479,81479
COL11A1 81479,81479
COL11A2 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
COL9A1 81479,81479
COL9A2 81479,81479
COL9A3 81479,81479
CRTAP 81479,81479
CSGALNACT1 81479,81479
DCHS1 81479,81479
DSE 81479,81479
EFEMP2 81479,81479
ELN 81479,81479
ERBIN 81479,81479
FBLN5 81479,81479
FBN1 81408,81479
FBN2 81479,81479
FKBP14 81479,81479
FLCN 81479,81479
FLNA 81479,81479
FLNB 81479,81479
FOXE3 81479,81479
GGCX 81479,81479
GORAB 81479,81479
KIF22 81479,81479
LOX 81479,81479
LOXL3 81479,81479
LRP2 81479,81479
LTBP3 81479,81479
LTBP4 81479,81479
LZTS1 81479,81479
MAT2A 81479,81479
MED12 81479,81479
MFAP5 81479,81479
MYH11 81408,81479
MYLK 81479,81479
NEK9 81479,81479
NEPRO 81479,81479
NOTCH1 81407,81479
NT5E 81479,81479
P3H1 81479,81479
P4HA1 81479,81479
PLOD1 81479,81479
PLOD3 81479,81479
PLP1 81405,81404
PRDM5 81479,81479
PRKG1 81479,81479
PYCR1 81479,81479
RIN2 81479,81479
ROBO3 81479,81479
ROCK2 81479,81479
SERPING1 81479,81479
SHOC2 81405,81479
SKI 81479,81479
SLC2A10 81479,81479
SLC39A13 81479,81479
SMAD2 81479,81479
SMAD3 81479,81479
SMAD4 81406,81405
SMS 81479,81479
SPARC 81479,81479
TGFB2 81479,81479
TGFB3 81479,81479
TGFBR1 81405,81479
TGFBR2 81405,81479
TNFRSF1A 81479,81479
TNXB 81479,81479
VCAN 81479,81479
ZNF469 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
7947Genes x (99)81479 81404(x1), 81405(x6), 81406(x3), 81407(x3), 81408(x4), 81479(x181) $1310 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 Custom Panel tool.

TNXB exons 32-44 are not analyzed due to multiple close copies of these sequences in the genome. If full coverage of TNXB is needed, we can offer that enhancement for an additional $530 (Test Code 6088).

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn 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

  • Megan Piazza, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Connective tissue disorders mainly involve three systems: musculoskeletal, ocular and cardiovascular. Connective tissue disorders include many conditions such as Ehlers-Danlos syndrome (EDS) and Marfan syndrome. Due to clinical overlap with other syndromes and disorders, diagnosis can be challenging (Armon and Bale. 2012. PubMed ID: 22916581; Vanakker et al. 2015. PubMed ID: 26002060).

Genetics

This panel includes genes associated with variety of genetic conditions such as Ehlers-Danlos syndrome (EDS), cutis laxa, Marfan syndrome, Loeys-Dietz syndrome, Stickler syndrome, frontometaphyseal dysplasia, Larsen syndrome, and newly identified genes involving joint problems. Connective disorders are genetically heterogenous and can be inherited in an autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL) manner.

See also individual gene test descriptions for information on clinical features, molecular biology of gene products, and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

This test is predicted to detect a disease-causing variant in approximately 30% of individuals with familial thoracic aortic aneurysm and dissection (TAAD) (Milewicz and Regalado. 2017. PubMed ID: 20301299). This test is predicted to detect pathogenic variants in 22%-35% of Supravalvar aortic stenosis patients that do not have gross deletions in the ELN gene (Metcalfe et al. 2000. PubMed ID: 11175284; Micale et al. 2010. PubMed ID: 19844261). Deletions of 7q11.23 which encompasses the ELN gene are commonly found in individuals with Williams syndrome. This NGS test will detect copy number changes in the ELN gene.

COL3A1 pathogenic variants have been identified in approximately 95% of individuals with Ehlers-Danlos Syndrome (EDS) IV (Byers. 2019. PubMed ID: 20301667). COL5A1 or COL5A2 pathogenic variants have been identified in at least 50% of affected individuals with classic EDS (Malfait et al. 2018. PubMed ID: 20301422).

Causative variants in COL2A1 and COL11A1 account for 80-90% and 10-20% of variants identified in autosomal dominant Stickler Syndrome (STL), respectively; causative variants in COL11A2 account for rare dominant cases. Causative variants in COL9A1, COL9A2, COL9A3, LOXL3, and LRP2 have been found only in a few families affected with autosomal recessive inheritance of STL syndrome (Robin et al. 2017. PubMed ID: 20301479; Schrauwen et al. 2014. PubMed ID: 23992033; Alzahrani et al. 2015. PubMed ID: 25663169).

The sensitivity for large deletions and duplications in the COL2A1, COL11A2, COL9A1, COL9A2, and COL9A3 genes is probably low, because only a few cases with large deletions and insertions involving these five genes have been reported (Van Der Hout et al. 2002. PubMed ID: 12204008; Human Mutation Database). However, large deletions in the COL11A1 gene were detected in six unrelated Stickler syndrome patients by MLPA (Vijzelaar et al. 2013. PubMed ID: 23621912).

Testing Strategy

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

This panel typically provides 98.8% coverage of all coding exons of the genes 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. TNXB exons 32-44 are not analyzed due to multiple close copies of these sequences in the genome. If full coverage of TNXB is needed, we can offer that enhancement for an additional cost.

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with clinical features of Ehlers-Danlos syndrome or Ehlers-Danlos syndrome related conditions, Marfan syndrome and Loeys-Dietz syndrome, Stickler syndrome, frontometaphyseal dysplasia, or cutis laxa.

Diseases

Name Inheritance OMIM ID
Achondrogenesis Type 2 AD 200610
Acromicric Dysplasia AD 102370
Adams-Oliver Syndrome 5 AD 616028
Adult Hypophosphatasia AD 146300
Al-Gazali syndrome AR 609465
Anauxetic dysplasia 3 AR 618853
Aortic Aneurysm, Familial Thoracic 10 AD 617168
Aortic Aneurysm, Familial Thoracic 11, susceptibility to AD 617349
Aortic Aneurysm, Familial Thoracic 4 AD 132900
Aortic Aneurysm, Familial Thoracic 6 AD 611788
Aortic Aneurysm, Familial Thoracic 7 AD 613780
Aortic Aneurysm, Familial Thoracic 8 AD 615436
Aortic Aneurysm, Familial Thoracic 9 AD 616166
Aortic Valve Disorder AD 109730
Aphakia, Congenital Primary AR 610256
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 AD 107970
Arterial Calcification, Generalized, of Infancy, 2 AR 614473
Arterial Tortuosity Syndrome AR 208050
Arthrogryposis, Perthes disease, and upward gaze palsy AR 614262
Atelosteogenesis, type I AD 108720
Atelosteogenesis, type III AD 108721
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
Birt-Hogg-Dube Syndrome AD 135150
Bone Fragility With Contractures, Arterial Rupture, And Deafness AR 612394
Boomerang Dysplasia AD 112310
Brittle Cornea Syndrome 1 AR 229200
Brittle Cornea Syndrome 2 AR 614170
Caffey Disease AD 114000
Calcification Of Joints And Arteries AR 211800
Cardiac Valvular Dysplasia, X-Linked XL 314400
Cataract 34, multiple types 612968
Childhood Hypophosphatasia AR 241510
Chondrodysplasia with Joint Dislocations, Gpapp Type AR 614078
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 AD 619115
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 AD 619120
Complement Component 4, Partial Deficiency Of AD 120790
Complement Component c1s Deficiency 613783
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
Cutis Laxa, Autosomal Recessive, Type IIIB 614438
Czech Dysplasia Metatarsal Type AD 609162
Deafness, Autosomal Dominant 13 AD 601868
Deafness, autosomal dominant 37 AD 618533
Deafness, Autosomal Recessive 53 AR 609706
Dental Anomalies and Short Stature AR 601216
Donnai Barrow Syndrome AR 222448
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, arthrochalasia type, 2 AD 617821
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 2 AD 130010
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
Epileptic Encephalopathy, Infantile or Early Childhood, 3 AD 618012
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness AD 132450
Esophageal Cancer 133239
Familial Colorectal Cancer 114500
Fg Syndrome XL 305450
FG Syndrome 2 XL 300321
Fibrochondrogenesis AR 228520
Fibrochondrogenesis 2 AD 614524
Fibromuscular dysplasia, multifocal AD 619329
Frontometaphyseal Dysplasia XL 305620
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis AR 607313
Geleophysic Dysplasia AR 231050
Geleophysic Dysplasia 2 AD 614185
Geleophysic dysplasia 3 AD 617809
Geroderma Osteodysplasticum AR 231070
Hereditary Angioneurotic Edema AD 106100
Hereditary Nonpolyposis Colorectal Cancer Type 6 614331
Homocystinuria Due To Cbs Deficiency AR 236200
Immunodeficiency and Hepatopathy with Cutis Laxa XL 300972
Infantile Hypophosphatasia AR 241500
Intervertebral Disc Disorder 603932
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked XL 300048
Juvenile Polyposis Syndrome AD 174900
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome AD 175050
Kniest Dysplasia AD 156550
Larsen Syndrome, Dominant Type AD 150250
Legg-Calve-Perthes Disease AD 150600
Lethal congenital contracture syndrome 10 AR 617022
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
Lujan-Fryns Syndrome XL 309520
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
Megacystis-microcolon-intestinal hypoperistalsis syndrome AR 249210
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 AR 619351
Melnick-Needles Syndrome XL 309350
Menkes Kinky-Hair Syndrome XL 309400
Mitral valve prolapse 2 AD 607829
Moyamoya Disease 5 614042
Multiple Epiphyseal Dysplasia 2 AD 600204
Multiple Epiphyseal Dysplasia 3 AD 600969
Multiple Epiphyseal Dysplasia 6 AD 614135
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects AR 245600
Multiple sclerosis, susceptibility to, 5 614810
Multiple Self Healing Squamous Epithelioma AD 132800
Multisystemic Smooth Muscle Dysfunction Syndrome AD 613834
Myhre Syndrome AD 139210
Myosclerosis, Autosomal Recessive AR 255600
Neuropathy, Hereditary, with or without Age-Related Macular Degeneration AD 608895
Nevus comedonicus, somatic 617025
Noonan-Like Syndrome With Loose Anagen Hair AD 607721
Occipital Horn Syndrome XL 304150
OHDO Syndrome, X-linked; OHDOX XL 300895
Osteoarthritis With Mild Chondrodysplasia AD 604864
Osteogenesis Imperfecta Type III AD 259420
Osteogenesis Imperfecta, Type I AD 166200
Osteogenesis Imperfecta, Type II AD 166210
Osteogenesis Imperfecta, Type IV AD 166220
Osteogenesis Imperfecta, Type VII AR 610682
Osteogenesis Imperfecta, Type VIII AR 610915
Osteogenesis Imperfecta, Type XVII AR 616507
Osteoporosis AD 166710
Oto-Palato-Digital Syndrome Type 1 XL 311300
Oto-Palato-Digital Syndrome, Type II XL 304120
Otospondylomegaepiphyseal Dysplasia AR 215150
Pancreatic Cancer 260350
Pelizaeus-Merzbacher Disease XL 312080
Platyspondylic Lethal Skeletal Dysplasia Torrance Type AD 151210
Pneumothorax, Primary Spontaneous AD 173600
Polymicrogyria with or without vascular-type EDS AR 618343
Pseudoxanthoma Elasticum AR 264800
Pseudoxanthoma Elasticum, Forme Fruste AD 177850
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency 610842
Renal Cell Carcinoma, Nonpapillary 144700
Shprintzen-Goldberg Syndrome AD 182212
Sifrim-Hitz-Weiss Syndrome AD 617159
Skeletal dysplasia, mild, with joint laxity and advanced bone age AR 618870
Snyder Robinson Syndrome XL 309583
Spastic Paraplegia 2 XL 312920
Spastic Paraplegia 9A AD 601162
Spastic Paraplegia 9B AR 616586
Spinal Muscular Atrophy, Distal, X-Linked 3 XL 300489
Spondylocarpotarsal Synostosis Syndrome AR 272460
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like AR 612350
Spondyloepimetaphyseal Dysplasia Strudwick Type AD 184250
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures AR 271640
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 AD 603546
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 3 AD 184840
Stickler Syndrome, Type 4 614134
Stickler Syndrome, Type 5 AR 614284
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Stiff Skin Syndrome AD 184900
Supravalvar Aortic Stenosis AD 185500
Terminal Osseous Dysplasia XL 300244
Tnf Receptor-Associated Periodic Fever Syndrome (Traps) AD 142680
Ullrich Congenital Muscular Dystrophy AR 254090
Ullrich Congenital Muscular Dystrophy 2 AD 616470
Van Maldergem Syndrome 1 AR 601390
Vesicoureteral Reflux 8 AD 615963
Visceral myopathy 2 AD 619350
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 AR 277450
Vitreoretinopathy with phalangeal epiphyseal dysplasia AD 619248
Wagner Syndrome AD 143200
Weill-Marchesani Syndrome 2 AD 608328
Wrinkly Skin Syndrome AR 278250
X-Linked Periventricular Heterotopia XL 300049

Related Test

Name
PGxome®

Citations

  • Alzahrani et al. 2015. PubMed ID: 25663169
  • Armon and Bale. 2012. PubMed ID: 22916581
  • Byers. 2019. PubMed ID: 20301667
  • Human Gene Mutation Database (Biobase).
  • Malfait et al. 2018. PubMed ID: 20301422
  • Metcalfe et al. 2000. PubMed ID: 11175284
  • Micale et al. 2010. PubMed ID: 19844261
  • Milewicz and Regalado. 2017. PubMed ID: 20301299
  • Robin et al. 2017. PubMed ID: 20301479
  • Schrauwen et al. 2014. PubMed ID: 23992033
  • Van Der Hout et al. 2002. PubMed ID: 12204008
  • Vanakker et al. 2015. PubMed ID: 26002060
  • Vijzelaar et al. 2013. PubMed ID: 23621912

Ordering/Specimens

Ordering Options

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.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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