Many people with inherited syndromes are born with multiple congenital anomalies, or physical differences that make them distinctive. Determining the underlying answer to explain these is often based on recognizing a pattern of congenital anomalies, which can involve multiple organ systems. Ambry offers molecular testing for genetic syndromes that present with these types of characteristics to aid in diagnostic assessment and confirmation.
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 syndromes involving multiple congenital anomalies is listed, with links for more details.
|Condition Name||Gene(s)||TAT (days)|
|Cornelia de Lange syndrome||HDAC8, NIPBL, RAD21, SMC1A, SMC3||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|
|Noonan syndrome||KRAS, PTPN11, RAF1, SOS1||14-28|
|Primary ciliary dyskinesia||ARMC4, CCDC39, CCDC40, CCDC103, CCDC114, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH5, DNAH11, DNAI1, DNAI2, LRRC6, NME8 (TXNDC3), OFD1, RPGR, RSPH4A, RSPH9, SPAG1||4-5 weeks|