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Corneal Dystrophies Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
3029 AGBL1 81479,81479 Order Options and Pricing
CHRDL1 81479,81479
CHST6 81479,81479
COL8A2 81479,81479
CYP4V2 81479,81479
DCN 81479,81479
FOXE3 81479,81479
GJA8 81479,81479
GRHL2 81479,81479
GSN 81479,81479
KERA 81479,81479
KRT12 81479,81479
KRT3 81479,81479
LOXHD1 81479,81479
MAF 81479,81479
OVOL2 81479,81479
PIKFYVE 81479,81479
PITX2 81479,81479
PRDM5 81479,81479
SLC4A11 81479,81479
TACSTD2 81479,81479
TCF4 81406,81405
TGFBI 81479,81479
UBIAD1 81479,81479
VSX1 81479,81479
ZEB1 81479,81479
ZNF469 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
3029Genes x (27)81479 81405(x1), 81406(x1), 81479(x52) $890 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.

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

  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

Corneal dystrophies (CDs) are rare inherited disorders. Clinically, CDs are characterized as loss of corneal transparency and impaired refraction, which may be caused by a progressive accumulation of deposits (which can be amyloid, hyaline or a combination) on different layers of the cornea. With disease progression, visual acuity gradually decreases and can lead to visual impairment (Correa-Gomez et al. 2007. PubMed ID: 17893671; Klintworth 2009. PubMed ID: 19236704). CDs are non-inflammatory corneal diseases that are classified into three groups based on the sole or predominant anatomical location of the deposits. The three groups are anterior CDs, stromal CDs and posterior CDs. Most CDs exhibit autosomal dominant inheritance with a high degree of penetration. However, CDs present marked inter-and intra-familial variation in clinical expressivity (Klintworth 2009. PubMed ID: 19236704; Munier et al. 2002. PubMed ID: 11923233). CDs are typically evident in first or second decades of life, and manifestations are restricted to the cornea (Zenteno et al. 2006. PubMed ID: 16636649; Klintworth 2009. PubMed ID: 19236704).

Genetics

Corneal dystrophies (CDs) are genetically heterogeneous. Autosomal dominant and autosomal recessive Mendelian modes of inheritance have been reported. Different types of corneal dystrophies are caused by pathogenic variants in the AGBL1, CHST6, COL8A2, KRIT3, DCN, KRT12, PIKFYVE, SLC4A11, TACSTD2, TGFBI, UBIAD1, VSX1, CHRDL1, CYP4V2, FOXE3, GJA8, GSN, KERA, LOXHD1, MAF, OVOL2, PRDM5, TCF4, ZNF469, PITX2 and ZEB1 genes (Poulaki and Colby 2008. PubMed ID: 18214787; Klintworth 2009. PubMed ID: 19236704; Riazuddin et al. 2010. PubMed ID: 20036349; Riazuddin et al. 2013. PubMed ID: 24094747; Bredrup et al. 2005. PubMed ID 15671264). CHST6, CYP4V2, KERA, LOXHD1, PRDM5, ZNF469 and TACSTD2 pathogenic variants cause autosomal recessive CDs. The remaining genes are all associated with autosomal dominant CDs. All types of pathogenic variants (missense, nonsense, splicing, small insertions/duplications, large deletions and duplications) have been reported in AGBL1 (~2), CHST6 (~150), COL8A2 (~5), ZEB1 (~2), DCN, KRT12 (~20), PIKFYVE (~10), SLC4A11 (~90), TACSTD2 (~25), TGFBI (~65), UBIAD1 (~25), VSX1 (~10) CHRDL1 (~20), CYP4V2 (~80), FOXE3 (~3), GJA8 (~3) GSN (~2), KERA (~10), LOXHD1 (~15), MAF (~2), OVOL2 (~4), PRDM5 (~10), TCF4 (~2), ZNF469 (~30), PITX2 (~1), and ZEB1 (~40) that are causative for CDs (Human Gene Mutation Database).

See individual gene test descriptions for information on molecular biology of gene products and mutation spectra.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to genetic heterogeneity, determining the clinical sensitivity is difficult. A mutation spectrum analysis identified TGFBI pathogenic variants in 80% (50/61) of corneal dystrophy patients (Munier et al. 2002. PubMed ID: 11923233). A mutation screening in 26 affected members of 20 Japanese Gelatinous drop-like corneal dystrophy families identified TACSTD2 pathogenic variants in all 26 individuals. A founder mutation c.352C>T(p.Gln118*) was found in 33 out of 40 (82.5%) disease alleles (Tsujikawa et al. 1999. PubMed ID: 10192395).

So far, only in AGBL1, CHST6, CHRDL1, COL8A2, CYP4V2, KRT12, KRT3, LOXHD1, PIP5K3, PITX2, PRDM5, SLC4A11, TACSTD2, TCF4 and UBIAD1 have large deletions and duplications been reported (Human Gene Mutation Database).

Testing Strategy

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

This panel typically provides 99.3% 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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

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

All patients with symptoms suggestive of Corneal dystrophies are candidates.

Diseases

Name Inheritance OMIM ID
Amyloidosis, Finnish Type AD 105120
Aortic Aneurysm, Familial Thoracic 11, susceptibility to AD 617349
Aphakia, Congenital Primary AR 610256
Avellino Corneal Dystrophy AD 607541
Axenfeld-Rieger syndrome, type 1 AD 180500
Ayme-Gripp Syndrome AD 601088
Bietti Crystalline Corneoretinal Dystrophy AR 210370
Brittle Cornea Syndrome 1 AR 229200
Brittle Cornea Syndrome 2 AR 614170
Cataract 21 AD 610202
Cataract 34, multiple types AD 612968
Cataract, Zonular Pulverulent 1 AD 116200
Congenital Stromal Corneal Dystrophy AD 610048
Cornea Plana 2 AR 217300
Corneal Dystrophy Fuchs Endothelial 1 AR 136800
Corneal dystrophy, Fuchs endothelial, 3 AD 613267
Corneal Dystrophy, Fuchs Endothelial, 4 AD 613268
Corneal Dystrophy, Fuchs Endothelial, 6 AD 613270
Corneal Dystrophy, Fuchs Endothelial, 8 AD 615523
Corneal Dystrophy, Posterior Polymorphous, 2 AD 609140
Corneal dystrophy, posterior polymorphous, 4 AD 618031
Corneal Endothelial Dystrophy Type 2 AD 217700
Corneal Epithelial Dystrophy AD 121820
Deafness, Autosomal Recessive 77 AR 613079
Fleck Corneal Dystrophy AD 121850
Groenouw Corneal Dystrophy Type I AD 121900
Iridogoniodysgenesis, Dominant Type AD 137600
Keratoconus 1 AD 148300
Lattice Corneal Dystrophy Type 3A AD 608471
Lattice Corneal Dystrophy Type I AD 122200
Lattice Corneal Dystrophy Type III AR 204870
Macular Corneal Dystrophy Type I AD 217800
Meesmann Corneal Dystrophy AD 122100
Pitt-Hopkins Syndrome AD 610954
Polymorphous Corneal Dystrophy AD 122000
Reis-Bucklers' Corneal Dystrophy AD 608470
Ring Dermoid Of Cornea AD 180550
Schnyder Crystalline Corneal Dystrophy AR 121800
Thiel-Behnke Corneal Dystrophy AD 602082

Related Test

Name
PGxome®

Citations

  • Bredrup et al. 2005. PubMed ID: 15671264
  • Correa-Gomez et al. 2007. PubMed ID: 17893671
  • Human Gene Mutation Database (Bio-base).
  • Klintworth. 2009. PubMed ID: 19236704
  • Munier et al. 2002. PubMed ID: 11923233
  • Poulaki and Colby. 2008. PubMed ID: 18214787
  • Riazuddin et al. 2010. PubMed ID: 20036349
  • Riazuddin et al. 2013. PubMed ID: 24094747
  • Tsujikawa et al. 1999. PubMed ID: 10192395
  • Zenteno et al. 2006. PubMed ID: 16636649

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.
Total Price: $
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