Cataract 19 (CTRCT19) via the LIM2 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
3921 LIM2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3921LIM281479 81479(x2) $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.

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).

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 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

  • Jamie Fox, PhD

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. PubMed ID: 14743013). 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. PubMed ID: 8724637). LIM2-associated Cataract 19 (CTRCT19) is described as variable age of onset cortical pulverulent cataracts (Pras et al. 2002. PubMed ID: 11917274).

Genetics

CTRCT19 is an autosomal recessive vision disorder that is caused by pathogenic sequence variants in the LIM2 gene, which encodes lens intrinsic membrane protein 2 (MP19) (Irum et al. 2016. PubMed ID: 27814360; Ponnam et al. 2008. PubMed ID: 18596884). MP19 is the second most abundant intrinsic membrane protein within the ocular lens and likely has a critical role in the development and/or maintenance of the ocular lens (Steele et al. 1997. PubMed ID: 9238094). Mouse mutant studies suggested that a homozygous missense variant in LIM2 (p.Cys51Arg) resulted in irregularly arranged lens fiber layers in the cortex. This variant in the heterozygous state resulted in reduced eye size, but visual properties were not affected. These results demonstrate that causative variants in this gene might have an effect on lens development in a semidominant manner (Puk et al. 2011. PubMed ID: 21617753).

To date, less than 5 pathogenic sequence variants have been reported, all of which are missense (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the limited number of cases, predicting clinical sensitivity is difficult. All reported LIM2 pathogenic variants are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the LIM2 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. 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

The ideal LIM2 test candidates are individuals who present with autosomal recessive presenile cataract or late-onset cortical pulverulent cataracts. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LIM2.

Gene

Official Gene Symbol OMIM ID
LIM2 154045
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Cataract 19 AR 615277

Related Test

Name
Cataract 23 (CTRCT23) via the CRYBA4 Gene

Citations

  • Francis and Moore. 2004. PubMed ID: 14743013
  • Human Gene Mutation Database (Bio-base).
  • Irum et al. 2016. PubMed ID: 27814360
  • Lambert and Drack. 1996. PubMed ID: 8724637
  • Ponnam et al. 2008. PubMed ID: 18596884
  • Pras et al. 2002. PubMed ID: 11917274
  • Puk et al. 2011. PubMed ID: 21617753
  • Steele et al. 1997. PubMed ID: 9238094

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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