Genetic Testing

SDA home Clinical Features SDA Board Medical Advisor Contact Us Grants Donate Research Resources Request Info Help SDA Genetic Testing SDS  News Newsletter SDS Registry Medical Articles SDA Blog

SDS Genetic Testing

SBDS genetic testing is currently available in two labs in the United States. 

The Ambry Test is a full gene sequence analysis of the SBDS gene. 

FAQ: What is the turnaround time for the Ambry Test: SDS?

Results are reported in 10-21 days

FAQ:  Turn-Around Time:

 Mutation detection in a new patient Approx. 6 weeks

 Testing of a relative for one specific mutation*  3-4 weeks

Testing of a relative for two specific mutations*=  3-4 weeks

Prenatal diagnosis for specific known mutations* Approx. 2 weeks

SBDS Testing outside the United States:

FAQ:  The average turnaround time

  • approximately 2 weeks for rush/stat cases
  • approximately 4 weeks for routine cases