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Bietti Crystalline Corneoretinal Dystrophy via the CYP4V2 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
8235 CYP4V2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8235CYP4V281479 81479,81479 $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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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

  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive chorioretinal degeneration disorder. It is characterized by the presence of yellow-white crystals in the corneal limbus and the retina associated with progressive atrophy of the retinal pigment epithelium (RPE) and sclerosis of choroidal vessels. In some patients, these crystalline deposits are also present in circulating lymphocytes (Wilson et al. 1989). Symptoms include decreased visual acuity, nyctalopia and paracentral scotomas. Later, patients develop constriction of the visual fields and slowly marked visual impairment, which leads to legal blindness in the late stages (Okialda et al. 2012). BCD is a relatively rare disorder, but may be underdiagnosed (Okialda et al. 1993) with highest prevalence reported in East Asian populations, especially in China and Japan (Hu 1987).

Genetics

BCD is a clinically and genetically homogeneous disorder with autosomal recessive inheritance (Xiao et al. 2011). CYP4V2, which encodes a CYP450 family protein, is the only causative gene for this disease. CYP4V2 is widely expressed in several tissues including the retina, and RPE and has been reported to be responsible for the prevention of lipotoxicity (Li et al. 2004; Lai et al. 2010). Biochemical studies suggest that BCD is associated with abnormal lipid metabolism in binding, elongation, or desaturation, and results in crystalline deposits in retinas (Lee et al. 2001; Lai et al. 2010). There are ~50 sequence variations (missense, nonsense, splicing, small insertions and deletions) in CYP4V2 which have been associated with BCD (Li et al. 2004; The Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

A mutation screen in the Chinese population identified pathogenic variations in CYP4V2 in all 21 families with Bietti crystalline corneoretinal dystrophy (BCD) (Xiao et al. 2011). Another study identified CYP4V2 mutations in eight (8/8) unrelated families and 9 (9/10) isolated individuals with BCD (Shan et al. 2005).

Testing Strategy

This test provides full coverage of all coding exons of the CYP4V2 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

Candidates for this test are patients with symptoms consistent of Bietti crystalline corneoretinal dystrophy, family members of patients who have known mutations and carrier testing for at-risk family members.

Gene

Official Gene Symbol OMIM ID
CYP4V2 608614
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Bietti Crystalline Corneoretinal Dystrophy AR 210370

Citations

  • Hu DN. 1987. Prevalence and mode of inheritance of major genetic eye diseases in China. Journal of medical genetics 24: 584–588. PubMed ID: 3500313
  • Human Gene Mutation Database (Bio-base).
  • Lai TYY, Chu K-O, Chan K-P, Ng T-K, Yam GHF, Lam DSC, Pang C-P. 2010. Alterations in Serum Fatty Acid Concentrations and Desaturase Activities in Bietti Crystalline Dystrophy Unaffected by CYP4V2 Genotypes. Investigative Ophthalmology & Visual Science 51: 1092–1097. PubMed ID: 19797200
  • Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Gahl WA, Markello TC, Guo J, Chader GJ. 2001. The metabolism of fatty acids in human Bietti crystalline dystrophy. Investigative ophthalmology & visual science 42: 1707–1714. PubMed ID: 11431432
  • Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R. 2004. Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2. The American Journal of Human Genetics 74: 817–826. PubMed ID: 15042513
  • Okialda KA, Stover NB, Weleber RG, Kelly EJ. 2012. Bietti Crystalline Dystrophy. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 22497028
  • Shan M, Dong B, Zhao X, Wang J, Li G, Yang Y, Li Y. 2005. Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. Mol Vis 11: 738–743. PubMed ID: 16179904
  • Wilson DJ, Weleber RG, Klein ML, Welch RB, Green WR. 1989. Bietti’s crystalline dystrophy. A clinicopathologic correlative study. Arch. Ophthalmol. 107: 213–221. PubMed ID: 2783846
  • Xiao X, Mai G, Li S, Guo X, Zhang Q. 2011. Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. Biochem. Biophys. Res. Commun. 409: 181–186. PubMed ID: 21565171

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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