Rubinstein-Taybi syndrome is a polymalformation syndrome characterized by mental retardation, postnatal growth retardation, microcephaly, broad thumbs, and dysmorphic facial features, among other possible findings. The facial phenotype is characteristic, with arched eyebrows, long eyelashes, downward-sloping palpebral fissures, wide nasal bridge, peaked nose, high-arched palate, micrognathia, and a characteristic smile.
Rubinstein-Taybi syndrome: 1 / 100,000 – 125,000 (ORPHA:783).
The Rubinstein-Taybi and differential diagnosis service is recommended as it is the most cost-efficient approach to studying the two genes involved in the phenotype when there is at least moderate suspicion of the disease. It also allows the gene analysis associated with the differential diagnosis.
The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention or early detection of associated comorbidities, some of them with potentially life-threatening consequences.
The Rubinstein-Taybi and differential diagnosis service is considered clinically indicated when there is at least moderate clinical suspicion that the patient suffers from this disease.
The analysis of the CREBBP and EP300 genes makes it possible to identify the molecular cause in up to 70% of patients with the syndrome.
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
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
"*" indicates required fields
Turnaround time (TAT): 25 days
Ref. S-202211844
Virtual panel based on whole exome sequencing, aimed at analyzing all genes of high evidence related to Rubinstein-Taybi syndrome and those associated with differential diagnosis entities.
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.
Rubinstein-Taybi syndrome
