SOX2 single gene test
Test code: S01762
- Microphthalmia, syndromic
Some regions of the gene are duplicated in the genome leading to limited sensitivity within the regions. Thus, low-quality variants are filtered out from the duplicated regions and only high-quality variants confirmed by other methods are reported out. Read more.
Panels that include the gene
- Neuro-Ophthalmology Panel
- Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
- Septo-Optic Dysplasia Panel
- Comprehensive Skeletal / Malformation Syndrome Panel
- Comprehensive Short Stature Syndrome Panel
- Gastrointestinal Atresia Panel
For pricing inquiries, please contact (email@example.com) or call the sales support team +358 40 2511 372.
Accepted sample types
- EDTA blood, min. 1 ml
- Purified DNA, min. 5μg
- Saliva (Oragene DNA OG-500 kit)
Label the sample tube with your patient’s name, date of birth and the date of sample collection.
Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.