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)
Alagille syndrome JAG1 14-28
CHARGE syndrome CHD7 14-28
Coffin-Lowry syndrome RPS6KA3 14-28
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
Kleefstra syndrome EHMT1 14-28
Lowe syndrome OCRL 14-28
Noonan syndrome KRAS, PTPN11, RAF1, SOS1 14-28
Oral-facial-digital syndrome OFD1 14-28
Prader-Willi syndrome   7-14
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
Rubinstein-Taybi syndrome CREBBP 14-28
Simpson-Golabi-Behmel syndrome GPC3 14-28
Smith-Lemli-Opitz syndrome DHCR7 14-28
Smith-Magenis syndrome RAI1 14-28
Sotos syndrome NSD1 14-28


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