Non-syndromic myopia magna [44 genes]

The Non-syndromic myopia magna panel excludes genes related to syndromic forms with respect to the general myopia magna panel.

Knowing the genetic cause of the disease can help in making clinical decisions as well as achieving early detection in other family members.

This service would be indicated when the patient has been diagnosed with myopia magna and a genetic origin is suspected due to its severity, age of onset, or family history. The main accompanying requirement is not to have any suspicion of having a syndromic form of the disease.

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Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5. Result: the report

Via: e-mail and/or through the customer portal

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Non-syndromic myopia magna

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Technique: Exome

Turnaround time (TAT):

Ref. S-202313125

Non-syndromic myopia magna: View panel

Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes with high, moderate, and low evidence related to non-syndromic high myopia based on current literature.

  • AGRN
  • ARL6
  • ARR3
  • BSG
  • CACNA1F
  • COL11A1
  • COL2A1
  • CPSF1
  • CTNND2
  • CTSH
  • DZIP1
  • FLRT3
  • FZD5
  • GLRA2
  • GNAT1
  • GNB3
  • GPR179
  • GRM6
  • GUCY2D
  • LOXL3
  • LRIT3
  • LRPAP1
  • NDP
  • NDUFAF7
  • NYX
  • OPA1
  • OPN1LW
  • OTX2
  • P3H2
  • P4HA2
  • PAX6
  • PDE6B
  • PRIMPOL
  • RHO
  • RPGR
  • SCO2
  • SLC24A1
  • SLC35E2B
  • SLC39A5
  • SLITRK6
  • TNFRSF21
  • TRPM1
  • XYLT1
  • ZNF644

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Non-syndromic myopia magna

References

  1. Ordonez JL, Tekin M. Deafness and Myopia Syndrome. 2015 Jan 15 [Updated 2017 Sep 14]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK269029/