Congenital Cataracts Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10413 AGK 81479,81479 Order Options and Pricing
BFSP1 81479,81479
BFSP2 81479,81479
CHMP4B 81479,81479
CRYAA 81479,81479
CRYAB 81479,81479
CRYBA1 81479,81479
CRYBA4 81479,81479
CRYBB1 81479,81479
CRYBB2 81479,81479
CRYBB3 81479,81479
CRYGB 81479,81479
CRYGC 81479,81479
CRYGD 81479,81479
CRYGS 81479,81479
CTDP1 81479,81479
EPHA2 81479,81479
EYA1 81406,81405
FAM126A 81479,81479
FOXE3 81479,81479
FYCO1 81479,81479
GALK1 81479,81479
GCNT2 81479,81479
GJA3 81479,81479
GJA8 81479,81479
HSF4 81479,81479
LIM2 81479,81479
MAF 81479,81479
MIP 81479,81479
MIR184 81479,81479
NHS 81479,81479
P3H2 81479,81479
PAX6 81479,81479
PITX3 81479,81479
PXDN 81479,81479
SIL1 81405,81479
SLC16A12 81479,81479
SLC33A1 81479,81479
TDRD7 81479,81479
VIM 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10413Genes x (40)81479 81405, 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

Cataracts are defined as opacification of the crystalline lens of the eye that result in abnormal refraction index and light scattering. Congenital cataracts (CC) are a serious and leading cause of reversible blindness in childhood. They account for one-tenth of the cases of childhood blindness (Francis and Moore 2004). Estimated prevalence rate is 1.2 - 6.0 per 10,000 live births. Early diagnosis and surgery and optical correction have resulted in an improved outcome for infants with either unilateral or bilateral cataracts (Lambert and Drack 1996).

Genetics

Only 10–25% of congenital cataracts are hereditary. Cataracts are most often inherited as an autosomal dominant trait. CC also exhibits autosomal recessive or X-linked inheritance (Hejtmancik 2008). X-linked cataract is seen in Nance-Horan syndrome (NHS), which is an especially rare disorder. NHS has cataract along with prominent dental findings, dysmorphic features, and intellectual disability (Toutain et al. 1997; Stambolian et al. 1990).

Currently, isolated or primary cataracts have been mapped to about 40 genetic loci, and over 25 of those are connected to pathogenic variants in specific genes. However, this number is constantly increasing. Among the candidate genes, the majority of the identified pathogenic variants (about half) are in crystallins (CRYAA, CRYAB, CRYBA1, CRYBB1, CRYBB2, CRYBB3, CRYBA4, CRYGS, CRYGC, CRYGD), followed by (about a quarter) lens-specific connexins (GJA3, GJA8). The remainder are divided among growth and Transcription Factors (HSF4, MAF, PITX3), Membrane Proteins aquaporin-0 (AQP0,also known as MIP), cytoskeletal structural proteins (beaded filament structural proteins BFSP1 and BFSP2) and others (FYCO1, GCNT2, HSF4, LIM2, SIL1, TDRD7, FOXE3, CHMP4B, EPHA2, SLC33A1, AGK) (Hejtmancik 2008).

Pathogenic variants in CRYAB, CRYBB2, CRYBA4, CRYGS, CRYGC, FOXE3, PITX3, CHMP4B, GJA3, MIP, EPHA2, BFSP2, SLC33A1, MAF, CRYBA1 (also known as CRYBA3), GJA8, CRYAA, HSF4, CRYGB, EYA1, MIR184, PAX6, SLC16A12, VIM and CRYGD are inherited in an autosomal dominant manner. Pathogenic variants in AGK, CRYBB3, FYCO1, GCNT2, LIM2, SIL1, TDRD7, BFSP1, PXDN,CTDP1, FAM126A, GALK1, P3H2 and CRYBB1 are inherited in an autosomal recessive manner. Pathogenic variants in NHS gene causes an X-linked disorders. However, inheritance of the same variant in different families or within the same family can result in a varied clinical presentation of cataracts, which suggests the involvement of additional genes or modifying factors. On the other hand, identical clinical presentation of cataract also possible due to variants in completely different genes (Hejtmancik 2008; Santana and Waiswo 2011; Chen et al. 2011; Pras 2004; Haghighi et al. 2014).

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

Clinical Sensitivity - Sequencing with CNV PGxome

Whole exome sequencing identified pathogenic variants in 9 probands from 23 pedigrees affected by familial dominant cataract (39%) in CRYAA, CRYBB1, CRYBB3, CRYGC, CRYGD, GJA8 and MIP (Reis et al. 2013). Mutation screening in 25 Chinese families with congenital cataracts identified pathogenic variants in 10 families (40%) in 12 genes encoding crystallins (CRYAA, CRYAB, CRYBA1, CRYBB1, CRYBB2, CRYBB3, CRYBA4, CRYGS, CRYGC, CRYGD), and connexins (GJA3 and GJA8). Approximately 32% of the families had pathogenic variants in crystallin genes and 8% of the families had pathogenic variants in connexin genes (Sun et al. 2011).

To our knowledge, no studies have indicated what percentage of the cataract population has copy number variants or which genes have a high frequency of deletion/duplications. Copy number variants in AGK, BFSP1, CRYAB, EYA1, FAM126A, GCNT2, HSF4, NHS, PAX6, PITX3 and SIL1 have been reported to be causative to date (Human Gene Mutation Database).

Testing Strategy

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

This panel typically provides 99.4% 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.

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

Patients with multiple types of cataract such as aculeiform, crystalline, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate and with microcornea.

Related Test

Name
PGxome®

Citations

  • Chen J. et al. 2011. American journal of human genetics. 88: 827-38. PubMed ID: 21636066
  • Francis P.J., Moore A.T. 2004. Current opinion in ophthalmology. 15: 10-5. PubMed ID: 14743013
  • Haghighi A. et al. 2014. Orphanet journal of rare diseases. 9: 119. PubMed ID: 25208612
  • Hejtmancik J.F. 2008. Seminars in cell & developmental biology. 19: 134-49. PubMed ID: 18035564
  • Lambert S.R., Drack A.V. 1996. Survey of ophthalmology. 40: 427-58. PubMed ID: 8724637
  • Pras E. et al. 2004. Investigative ophthalmology & visual science. 45: 1940-5. PubMed ID: 15161861
  • Reis L.M. et al. 2013. Human genetics. 132: 761-70. PubMed ID: 23508780
  • Santana A., Waiswo M. 2011. Arquivos brasileiros de oftalmologia. 74: 136-42. PubMed ID: 21779674
  • Stambolian D. et al. 1990. American journal of human genetics. 47: 13-9. PubMed ID: 1971992
  • Sun W. et al. 2011. Molecular vision. 17: 2197-206. PubMed ID: 21866213
  • Toutain A. et al. 1997. Human genetics. 99: 256-61. PubMed ID: 9048931

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

View Ordering Instructions

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.

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