Genetic conditions with hematologic involvement can cause health complications to individuals at various ages. Some symptoms, like bone marrow failure, may overlap with pediatric oncology. Several flexible molecular testing options are available to aid in diagnostic assessment, confirmation, and identification of at-risk family members.

Ambry has a comprehensive testing menu for numerous inherited disorders, suitable for many medical subspecialties. Our responsible adoption of new technologies, helpful customer service, and clear results interpretation make us an ideal partner to help you find the answer for your patients and their families. Below, our testing for disorders with hematologic or pediatric oncology involvement is listed, with links for more details.

Condition Name Gene(s) TAT (days)
HBB-related disorders HBB 14-28
Diamond-Blackfan anemia RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RPL19, RPL26 14-28
Dyskeratosis congenita DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53 14-28
Familial Mediterranean fever MEFV 14-28
Shwachman-Diamond syndrome SBDS 14-28
Hereditary hemorrhagic telangiectasia ACVRL1, ENG, SMAD4, GDF2, RASA1 14-28


You can view a complete listing of Ambry’s testing options organized by disease here, and by gene here