Hereditary vitreoretinopathies [27 genes]

Service that includes the genes of the main vitreoretinopathies of a genetic cause, grouping both those that are non-syndromic and those that associate extraocular alterations.

The diseases contemplated in this panel are the following:

  • Familial exudative vitreoretinopathy.
  • Autosomal dominant vitreoretinochoroidopathy.
  • Autosomal dominant neovascular inflammatory vitreoretinopathy.
  • Snowflake vitreoretinal degeneration.
  • S-cone enlargement syndrome and Goldmann-Favre syndrome.
  • X-linked juvenile retinoschisis.
  • Stickler’s disease.
  • Kniest dysplasia.
  • Wagner syndrome.

Unknown

Recommended service in case of suspicion of hereditary vitreoretinopathy (whether it appears isolated or not in the patient), but it is not possible to complete the definitive diagnosis based on the phenotypic manifestations.

Well-founded suspicion of hereditary vitreoretinopathy without the possibility of reaching a clinical diagnosis.

Request study Informed consent
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

Ask for information
Solicita información de

Hereditary vitreoretinopathies

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.
Technique: Exome

Turnaround time (TAT):

Ref. S-202313110

Hereditary vitreoretinopathies: View panel

Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes related to genetic diseases that commonly cause vitreoretinopathies based on current literature.

  • ARHGAP31
  • BEST1
  • BMP4
  • CAPN5
  • COL11A1
  • COL11A2
  • COL2A1
  • COL9A1
  • COL9A2
  • COL9A3
  • CTNNA1
  • CTNNB1
  • DLG1
  • FZD4
  • JAG1
  • KCNJ13
  • KIF11
  • LOXL3
  • LRP5
  • NDP
  • NR2E3
  • RCBTB1
  • RS1
  • TGFBR2
  • TSPAN12
  • VCAN
  • ZNF408

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

  • Familial exudative vitreoretinopathy.
  • Autosomal dominant vitreoretinochoroidopathy.
  • Autosomal dominant neovascular inflammatory vitreoretinopathy.
  • Snowflake vitreoretinal degeneration.
  • S-cone enlargement syndrome and Goldmann-Favre syndrome.
  • X-linked juvenile retinoschisis.
  • Stickler’s disease.
  • Kniest dysplasia.
  • Wagner syndrome.