Skin and 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
12027 ABCA12 81479,81479 Order Options and Pricing
ABCC6 81479,81479
ALDH18A1 81479,81479
ALOX12B 81479,81479
ALOXE3 81479,81479
AP1S1 81479,81479
ATP2C1 81479,81479
ATP6V0A2 81479,81479
CARD14 81479,81479
CDK4 81479,81479
CERS3 81479,81479
COL17A1 81479,81479
COL7A1 81479,81479
CTC1 81479,81479
CYP4F22 81479,81479
DDB2 81479,81479
DKC1 81479,81479
DSP 81406,81479
DST 81479,81479
EFEMP2 81479,81479
ELN 81479,81479
ERCC1 81479,81479
ERCC2 81479,81479
ERCC3 81479,81479
ERCC4 81479,81479
ERCC5 81479,81479
FBLN5 81479,81479
FERMT1 81479,81479
FLG 81479,81479
ITGA3 81479,81479
ITGA6 81479,81479
ITGB4 81479,81479
JUP 81406,81479
KRT1 81479,81479
KRT10 81479,81479
KRT14 81479,81479
KRT2 81479,81479
KRT5 81479,81479
KRT9 81479,81479
LAMA3 81479,81479
LAMB3 81479,81479
LAMC2 81479,81479
LIPN 81479,81479
LTBP4 81479,81479
NHP2 81479,81479
NIPAL4 81479,81479
NOP10 81479,81479
PARN 81479,81479
PKP1 81479,81479
PLEC 81479,81479
PNPLA1 81479,81479
POLH 81479,81479
POMP 81479,81479
POT1 81479,81479
PYCR1 81479,81479
RIN2 81479,81479
RTEL1 81479,81479
SLC27A4 81479,81479
ST14 81479,81479
STS 81479,81479
TERC 81479,81479
TERT 81479,81479
TGM1 81479,81479
TGM5 81479,81479
TINF2 81479,81479
WRAP53 81479,81479
XPA 81479,81479
XPC 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12027Genes x (68)81479 81406, 81479 $990 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

Skin and connective tissue diseases are a group of disorders that can be inherited or acquired, and are characterized by abnormal function in one or more elements of connective tissue including collagen, elastin or mucopolysaccharides. Type VII collagen for example, is the main component of anchoring fibrils, and it plays a major role in stabilizing the skin. Variants in this gene disrupt the production of type VII collagen which then impairs its ability to anchor the dermis to the epidermis leading to skin separation (Pfendner and Lucky. 2018. PubMed ID: 20301481).

Genetics

This panel includes genes associated with a variety of skin disorders (DeStefano and Christiano. 2014. PubMed ID: 25274756). This panel offers testing for the following conditions: congenital ichthyosis, xeroderma pigmentosum, dyskeratosis congenita, cutis laxa and epidermolysis bullosa. Skin and connective tissue disorders are genetically heterogeneous and can occur in an autosomal dominant (AD), autosomal recessive (AR) or X-linked form.

See individual gene test descriptions for more information on molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in the COL7A1 gene can be found in ~95% of Dystrophic Epidermolysis Bullosa patients diagnosed via skin biopsy (Kern et al. 2006. PubMed ID: 16484981; Pfendner and Lucky. 2018. PubMed ID: 20301481). Only about 10 large genome rearrangements involving COL7A1 have been reported. In addition, one Dystrophic Epidermolysis Bullosa case with maternal COL7A1 Uniparental Disomy was reported (Fassihi et al. 2006. PubMed ID: 16710310; Human Gene Mutation Database).

In a retrospective study, all 76 studied patients diagnosed with severe Junctional Epidermolysis Bullosa based on skin biopsies, were found to have pathogenic variants in one of the LAMA3, COL17A, LAMB3, or LAMC2 genes (Hammersen et al. 2016. PubMed ID: 27375110). Pathogenic variants in ITGB4, PLEC, and ITGA6 account for ~60%, 15%, and 5%, respectively, of pathogenic variants reported in Epidermolysis Bullosa with Pyloric Atresia cases (Pfendner et al. 2017. PubMed ID: 20301336).

KRT5 and KRT14 pathogenic variants together account for ~75% of Epidermolysis Bullosa Simplex cases diagnosed with skin biopsy (Arin et al. 2010. PubMed ID: 20199538; Bolling et al. 2011. PubMed ID: 21375516). The percentage of cases due to each gene is approximately equal.

Ashton et al. found 17 different loss-of-function FERMT1 pathogenic variants in 41 clinically diagnosed Kindler syndrome families (Ashton et al. 2004. PubMed ID: 14987263). Several large del/dups have also been reported involving the FERMT1 gene (Chmel et al. 2015. PubMed ID: 26083552).

In one study, the pathogenic variant (c.2038_2039delTG) in the JUP gene was detected in all 19 Naxos patients of Greek origin (McKoy et al. 2000. PubMed ID: 10902626).

Pathogenic variants in the DSP gene were found in 16% of patients with clinical diagnosis of Arrhythmogenic right ventricular dysplasia (Bauce et al. 2005. PubMed ID: 15941723).

The proportion of Xeroderma Pigmentosum (in the US) that is attributed to pathogenic variants in DDB2, ERCC2, ERCC3, ERCC5, POLH, XPA and XPC are 3%, 28%, 1%, 3%, 7%, 9%, 43%, respectively. Causative variants in the XPA gene are more common in Japan and rare in the United States and Europe (Kraemer et al. 2016. PubMed ID: 20301571).

Pathogenic variants in ERCC1 and ERCC4 are rare, but have been reported in individuals affected with severe XP/Cockayne syndrome (Kashiyama et al. 2013. PubMed ID: 23623389) and cerebro-oculo-facio-skeletal syndrome (COFS) (Jaspers et al. 2007. PubMed ID: 17273966).

Only a few large del/dups involving the COL17A1, DSP, ITGB4, LAMB3, LAMC2, KRT14, PLEC, LAMA3, and KRT5 genes have been reported (Huber et al. 2002. PubMed ID: 11851893; Norgett et al. 2006. PubMed ID: 16628197; Schumann et al. 2013. PubMed ID: 23496044; Pulkkinen et al. 1995. PubMed ID: 7550237; Posteraro et al. 2004. PubMed ID: 15373767; Kopecková et al. 2016. PubMed ID: 26707537; Vahidnezhad et al. 2017. PubMed ID: 28830826; Has et al. 2017. PubMed ID: 28576738; Human Gene Mutation Database).

No large del/dups have been reported involving the DST, ITGA6, JUP, PKP1 genes.

For additional gene sensitivities, please refer to individual test descriptions.

Testing Strategy

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

This panel typically provides 99.4% 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.

Exon 3 of the FLG gene is not analyzed due to high paralogy in this region.

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

Individuals with a clinical presentation of a skin disorder, or individuals with a family history of skin disorders. Earlier diagnosis may improve patient prognosis through regular screening and treatment for early-onset malignancies. This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.

Diseases

Name Inheritance OMIM ID
Amelogenesis Imperfecta, Type IA AD 104530
Aml - Acute Myeloid Leukemia 601626
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 AD 611528
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 AD 607450
Arterial Calcification, Generalized, of Infancy, 2 AR 614473
Autosomal Recessive Cutis Laxa Type 3A AR 219150
Cardiomyopathy Dilated With Woolly Hair And Keratoderma AR 605676
Cerebrooculofacioskeletal Syndrome 2 AR 610756
Cerebrooculofacioskeletal syndrome 3 AR 616570
Cerebrooculofacioskeletal Syndrome 4 AR 610758
Cerebroretinal Microangiopathy with Calcifications and Cysts AR 612199
Congenital Ichthyosis Of Skin AR 242300
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities AR 613177
Cutis Laxa, Autosomal Dominant AD 123700
Cutis Laxa, Autosomal Dominant 2 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 IIIB AR 614438
Dermatitis, Atopic, 2 605803
Dermatopathia Pigmentosa Reticularis AD 125595
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis AD 615821
Dominant Dystrophic Epidermolysis Bullosa With Absence Of Skin AD 132000
Dyskeratosis Congenita Autosomal Dominant AD 127550
Dyskeratosis Congenita Autosomal Recessive AR 224230
Dyskeratosis Congenita X-Linked XL 305000
Dyskeratosis Congenita, Autosomal Dominant 4 AD 615190
Dyskeratosis Congenita, Autosomal Dominant, 2 AD 613989
Dyskeratosis Congenita, Autosomal Dominant, 3 AD 613990
Dyskeratosis Congenita, Autosomal Recessive 6 AR 616353
Dyskeratosis Congenita, Autosomal Recessive, 2 AR 613987
Dyskeratosis Congenita, Autosomal Recessive, 3 AR 613988
Ectodermal Dysplasia Skin Fragility Syndrome 604536
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy AR 226670
Epidermolysis Bullosa Herpetiformis, Dowling-Meara AD 131760
Epidermolysis Bullosa Pruriginosa AD 604129
Epidermolysis Bullosa Simplex AR 609352
Epidermolysis Bullosa Simplex With Mottled Pigmentation AD 131960
Epidermolysis bullosa simplex with nail dystrophy AR 616487
Epidermolysis Bullosa Simplex With Pyloric Atresia AR 612138
Epidermolysis Bullosa Simplex, Autosomal Recessive AR 601001
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 AR 615425
Epidermolysis Bullosa Simplex, Cockayne-Touraine Type AD 131800
Epidermolysis Bullosa Simplex, Koebner Type AD 131900
Epidermolysis Bullosa Simplex, Ogna Type AD 131950
Epidermolysis Bullosa With Pyloric Atresia AR 226730
Epidermolysis Bullosa, Lethal Acantholytic AR 609638
Epidermolysis Bullosa, Pretibial AD 131850
Epidermolytic Hyperkeratosis AD 113800
Epithelial recurrent erosion dystrophy AD 122400
Erythroderma, Ichthyosiform, Congenital Reticular AD 609165
Familial Benign Pemphigus AD 169600
Fanconi anemia, Complementation Group Q AR 615272
Generalized Dominant Dystrophic Epidermolysis Bullosa AD 131750
Glioma Susceptibility 9 AD 616568
Harlequin Ichthyosis AR 242500
Ichthyosiform Erythroderma, Nonbullous Congenital AR 242100
Ichthyosis Bullosa Of Siemens AD 146800
Ichthyosis Histrix, Curth-Macklin Type AD 146590
Ichthyosis Lamellar 3 AR 604777
Ichthyosis Prematurity Syndrome 608649
Ichthyosis Vulgaris AD 146700
Ichthyosis, congenital, autosomal recessive 10 AR 615024
Ichthyosis, Congenital, Autosomal Recessive 11 AR 602400
Ichthyosis, congenital, autosomal recessive 3 AR 606545
Ichthyosis, congenital, autosomal recessive 4A AR 601277
Ichthyosis, Congenital, Autosomal Recessive 8 AR 613943
Ichthyosis, Congenital, Autosomal Recessive 9 AR 615023
Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related AR 612281
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis AD 607602
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital AR 614748
Junctional Epidermolysis Bullosa AR 226700
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma AR 601952
Keratosis Palmoplantaris Striata 3 AD 607654
Keratosis Palmoplantaris Striata II AD 612908
Kindler's Syndrome AR 173650
Laryngoonychocutaneous Syndrome AR 245660
Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis AR 613075
MEDNIK Syndrome AR 609313
Melanoma, Cutaneous Malignant 3 AD 609048
Melanoma, Cutaneous Malignant, 9 AD 615134
Melanoma, Cutaneous Malignant, Susceptibility to, 10 AD 615848
Muscular Dystrophy, Limb-Girdle, Type 2Q AR 613723
Naegeli-Franceschetti-Jadassohn Syndrome AD 161000
Nail Disorder, Nonsyndromic Congenital, 8 AD 607523
Naxos Disease AR 601214
Neuropathy, Hereditary Sensory and Autonomic, Type VI AR 614653
Neuropathy, Hereditary, with or without Age-Related Macular Degeneration AD 608895
Non-Herlitz Junctional Epidermolysis Bullosa AR 226650
Palmoplantar Keratoderma, Epidermolytic AD 144200
Palmoplantar Keratoderma, Nonepidermolytic AD 600962
Peeling Skin Syndrome, Acral Type AR 609796
Pityriasis rubra pilaris AD 173200
Proteasome-associated autoinflammatory syndrome 2 AD 618048
Pseudoxanthoma Elasticum AR 264800
Pseudoxanthoma Elasticum, Forme Fruste AD 177850
Psoriasis susceptibility 2 AD 602723
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1; PFBMFT1 AD 614742
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 AD 614743
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 AD 616373
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 AD 616371
Recessive Dystrophic Epidermolysis Bullosa AR 226600
Reticulate Acropigmentation Of Kitamura AD 179850
Revesz Syndrome AD 268130
Skin Fragility Woolly Hair Syndrome AR 607655
Spastic Paraplegia 9A AD 601162
Spastic Paraplegia 9B AR 616586
Supravalvar Aortic Stenosis AD 185500
Transient Bullous Dermolysis Of The Newborn AD 131705
Trichothiodystrophy 2, photosensitive AR 616390
Trichothiodystrophy Photosensitive AR 601675
Wrinkly Skin Syndrome AR 278250
X-Linked Ichthyosis XL 308100
Xeroderma Pigmentosum Type 7 AR 278780
Xeroderma Pigmentosum, Complementation Group B AR 610651
Xeroderma Pigmentosum, Complementation Group C AR 278720
Xeroderma Pigmentosum, Complementation Group D AR 278730
Xeroderma Pigmentosum, Complementation Group E AR 278740
Xeroderma Pigmentosum, Complementation Group F AR 278760
Xeroderma Pigmentosum, Type 1 AR 278700
Xeroderma Pigmentosum, Variant Type AR 278750
XFE Progeroid Syndrome AR 610965

Related Test

Name
PGxome®

Citations

  • Arin et al. 2010. PubMed ID: 20199538
  • Ashton et al. 2004. PubMed ID: 14987263
  • Bauce et al. 2005. PubMed ID: 15941723
  • Bolling et al. 2011. PubMed ID: 21375516
  • Chmel et al. 2015. PubMed ID: 26083552
  • DeStefano and Christiano. 2014. PubMed ID: 25274756
  • Fassihi et al. 2006. PubMed ID: 16710310
  • Hammersen et al. 2016. PubMed ID: 27375110
  • Has et al. 2017. PubMed ID: 28576738
  • Huber et al. 2002. PubMed ID: 11851893
  • Human Gene Mutation Database (Biobase).
  • Jaspers et al. 2007. PubMed ID: 17273966
  • Kashiyama et al. 2013. PubMed ID: 23623389
  • Kern et al. 2006. PubMed ID: 16484981
  • Kopeckov√° et al. 2016. PubMed ID: 26707537
  • Kraemer et al. 2016. PubMed ID: 20301571
  • McKoy et al. 2000. PubMed ID: 10902626
  • Norgett et al. 2006. PubMed ID: 16628197
  • Pfendner and Lucky 2018. PubMed ID: 20301481
  • Pfendner et al. 2017. PubMed ID: 20301336
  • Posteraro et al. 2004. PubMed ID: 15373767
  • Pulkkinen et al. 1995. PubMed ID: 7550237
  • Schumann et al. 2013. PubMed ID: 23496044
  • Vahidnezhad et al. 2017. PubMed ID: 28830826

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.

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

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ORDER OPTIONS

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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.

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