Cataract 22, Multiple Types (CTRCT22) via the CRYBB3 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
3889 CRYBB3 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3889CRYBB381479 81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

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.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing 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

Cataract 22, multiple types (CTRCT22) is a common congenital or early-onset bilateral vision disorder that causes blindness in infants (Riazuddin et al. 2005). It is characterized by the development of blurred and dimmed vision resulting from clouding of the lens (opacification) due to changes in its microarchitecture (Kumar et al. 2013). This particular damage to the lens induces light to scatter as well as proteins to aggregate, thereby resulting in loss of transparency (Hejtmancik 2008). Intrafamilial variability in location (nuclear, polar, or both) within the lens and incomplete penetrance commonly occur in CTRCT22 (Reis et al. 2013). The incidence of congenital cataract has been estimated to be roughly 2.5 per 10,000 live births (Wirth et al. 2002; Yi et al. 2011). Perinatal ocular examination in newborns via red reflex examination is generally conducted using an ophthalmoscope (American Academy of Pediatrics 2002), whereas young children are assessed by slit-lamp microscopy (Li et al. 2013). Congenital cataract is usually treated by surgery and early primary intraocular lens implantation during the first year of life (Ventura et al. 2013).

Genetics

CTRCT22 exhibits both autosomal dominant and autosomal recessive inheritance, which is caused by pathogenic sequence variants in the crystallin, beta-b3 (CRYBB3) gene (Riazuddin et al. 2005; Reis LM. et al. 2013). CRYBB3 is located on chromosome 22q11.23 (Kramer et al. 1996). The CRYBB3 gene consists of five coding exons that encode a 211-amino acid structural protein called beta-crystallin, which plays an important role in the maintenance of lens transparency and refractive index. Pathogenic sequence variants in the CRYBB3 gene significantly reduce protein stability. To date, less than five pathogenic CRYBB3 sequence variants have been reported, which are mostly missense (Human Gene Mutation Database). Only a few families harboring pathogenic sequence variants in the CRYBB3 gene have been investigated, and thus the most common mode of inheritance has not been established to date. The two families separately described by Hansen et al. (2009) and Reis et al. (2013) showed an autosomal dominant pattern of inheritance, whereas the family reported by Riazuddin et al. (2005) followed an autosomal recessive pattern of inheritance.

Clinical Sensitivity - Sequencing with CNV PGxome

In Denmark, 3.6% (1 in 28) of the unrelated families with hereditary congenital cataract showed causative CRYBB3 sequence variants (Hansen et al. 2009). Also two consanguineous Pakistani families had CRYBB3 sequence variants that segregated with the disease (Riazuddin et al. 2005). However, 100 congenital cataract (CC) cases in India, 25 CC families in China and 38 CC index patients in Denmark had no CRYBB3 pathogenic variants (Kumar et al. 2013; Sun et al. 2014; Aldahmesh et al. 2012).

Testing Strategy

This test provides full coverage of all coding exons of the CRYBB3 gene 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 full 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

The ideal CRYBB3 test candidates are individuals with congenital cataract. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CRYBB3.

Gene

Official Gene Symbol OMIM ID
CRYBB3 123630
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Cataract 22 AD,AR 609741

Related Test

Name
Congenital Cataracts Panel

Citations

  • Aldahmesh M.A. et al. 2012. Genetics in Medicine. 14: 955-62. PubMed ID: 22935719
  • American Academy of Pediatrics. 2002. Pediatrics. 109: 980-1. PubMed ID: 11986467
  • Hansen L. et al. 2009. Investigative Ophthalmology & Visual Science. 50: 3291-303. PubMed ID: 19182255
  • Hejtmancik J.F. 2008. Seminars in cell & developmental biology. 19: 134-49. PubMed ID: 18035564
  • HGMD (Human Gene Mutation Database)
  • Kramer P. et al. 1996. Genomics. 35: 539-42. PubMed ID: 8812489
  • Kumar M. et al. 2013. Molecular Vision. 19: 2436-50. PubMed ID: 24319337
  • Li L.H. et al. 2013. The British Journal of Ophthalmology. 97: 588-91. PubMed ID: 23426739
  • Reis L.M. et al. 2013. Human genetics. 132: 761-70. PubMed ID: 23508780
  • Riazuddin S.A. et al. 2005. Investigative Ophthalmology & Visual Science. 46: 2100-6. PubMed ID: 15914629
  • Sun W. et al. 2014. Plos One. 9: e100455. PubMed ID: 24968223
  • Ventura M.C. et al. 2013. Arquivos Brasileiros De Oftalmologia. 76: 240-3. PubMed ID: 24061837
  • Wirth M.G. et al. 2002. The British Journal of Ophthalmology. 86: 782-6. PubMed ID: 12084750
  • Yi J. et al. 2011. International Journal of Ophthalmology. 4: 422-32. PubMed ID: 22553694

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

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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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