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Autosomal Dominant Congenital Cataracts via the MIP 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
MIP 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3929MIP81479 81479,81479 $990 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 platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

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

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks 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.


Genetic Counselors


  • Jamie Fox, PhD

Clinical Features and Genetics

Clinical Features

Cataracts are described as opacification of the crystalline lens of the eye that result in abnormal refraction index and light scattering. Congenital cataracts are a 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).


Only 10–25% of congenital cataracts are hereditary. Cataracts are most often inherited as an autosomal dominant trait. Cataracts also exhibit autosomal recessive or X-linked inheritance (Hejtmancik. 2008. PubMed ID: 18035564). X-linked cataract is seen in Nance-Horan syndrome (NHS), which is an especially rare disorder. NHS has cataracts along with prominent dental findings, dysmorphic features, and intellectual disability (Toutain et al. 1997. PubMed ID: 9048931; Stambolian et al. 1990. PubMed ID: 1971992). Currently, isolated or primary cataracts have been mapped to about 39 genetic loci, and over 25 of those are connected to pathogenic variants in specific genes. However, this number is constantly increasing (Hejtmancik. 2008. PubMed ID: 18035564).

Pathogenic variants in MIP are causative for autosomal dominant and recessive congenital cataracts, with recessive being the rare form (Gu et al. 2007. PubMed ID: 17893667; Bateman et al. 1986. PubMed ID: 3456204; Bateman et al. 2000. PubMed ID: 10937580). To date, ~25 pathogenic variants have been reported. The majority of the pathogenic variants that cause dominant congenital cataracts are missense variants, although all types of variants have been reported in both the dominant and recessive forms (Yu et al. 2014. PubMed ID: 24405844; Human Gene Mutation Database). There is no specific correlation regarding the genotype and specific forms of cataracts.

MIP encodes lens water channel protein AQP0 (major intrinsic protein), which is an abundant junctional membane protein that controlls the water content for the lens and also as a cell-to-cell adhesion molecule. AQP0 is expressed only in terminally differentiated fiber cells, which are the major cell type of the crystalline lens (Gu et al. 2007. PubMed ID: 17893667; Kumari et al. 2013. PubMed ID: 24120416). Pathogenic missense variants have been reported to impair cell-to-cell adhesion, which plays a vital role in maintaining lens transparency and homeostasis (Kumari et al. 2013. PubMed ID: 24120416).

Clinical Sensitivity - Sequencing with CNV PGxome

In one study, whole exome sequencing identified causative variants in 39% of families affected by cataracts. The genes studied were CRYAA, CRYBB1, CRYBB3, CRYGC, CRYGD, GJA8, and MIP. The MIP gene accounted for only one family (Reis et al. 2013. PubMed ID: 23508780).

Testing Strategy

This test provides full coverage of all coding exons of the MIP 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

All patients with symptoms suggestive of congenital cataracts, including binocular phenotype cataracts, are candidates.


Official Gene Symbol OMIM ID
MIP 154050
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Cataract 15 AD 615274

Related Tests

Congenital Cataracts Panel
Congenital Cataracts via the CHMP4B Gene


  • Bateman et al. 1986. PubMed ID: 3456204
  • Bateman et al. 2000. PubMed ID: 10937580
  • Francis and Moore. 2004. PubMed ID: 14743013
  • Gu et al. 2007. PubMed ID: 17893667
  • Hejtmancik. 2008. PubMed ID: 18035564
  • Human Gene Mutation Database (Bio-base).
  • Kumari et al. 2013. PubMed ID: 24120416
  • Lambert and Drack. 1996. PubMed ID: 8724637
  • Reis et al. 2013. PubMed ID: 23508780
  • Stambolian et al. 1990. PubMed ID: 1971992
  • Toutain et al. 1997. PubMed ID: 9048931
  • Yu et al. 2014. PubMed ID: 24405844


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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