List of diseases covered by
Craniosynostosis NGS panel
| Gene | Condition |
| ALX4 | Craniosynostosis 5, susceptibility to; Frontonasal dysplasia 2; Parietal foramina 2 |
| CD96 | Opitz trigonocephaly syndrome (C syndrome) |
| EFNB1 | Craniofrontonasal syndrome |
| ERF | Craniosynostosis 4 |
| FGFR1 | Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis; Hartsfield syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Osteoglophonic dysplasia; Trigonocephaly 1 |
| FGFR2 | Apert syndrome; Beare-Stevenson cutis gyrata syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Bent bone dysplasia syndrome; Craniofacial-skeletal-dermatologic dysplasia; Crouzon syndrome; Jackson-Weiss syndrome; LADD syndrome; Pfeiffer syndrome; Saethre-Chotzen syndrome; Scaphocephaly, maxillary retrusion, and mental retardation |
| FGFR3 | Achondroplasia; CATSHL syndrome; Crouzon syndrome with acanthosis nigricans; Hypochondroplasia; LADD syndrome; Muenke syndrome; SADDAN; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II |
| FLNA | FG syndrome 2; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; Frontometaphyseal dysplasia 1; Heterotopia, periventricular; Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia |
| GLI3 | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Polydactyly, preaxial, type IV |
| IHH | Syndactyly, type 1, with or without craniosynostosis (duplication 2q35); Acrocapitofemoral dysplasia; Brachydactyly, type A1 |
| IL11RA | Craniosynostosis and dental anomalies |
| SMAD6 | Craniosynostosis 7, susceptibility to |
| MSX2 | Craniosynostosis 2; Parietal foramina 1; Parietal foramina with cleidocranial dysplasia |
| POR | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered steroidogenesis due to cytochrome P450 oxidoreductase |
| RAB23 | Carpenter syndrome |
| RECQL4 | Baller-Gerold syndrome; RAPADILINO syndrome; Rothmund-Thomson syndrome |
| SEC24D | Cole-Carpenter syndrome 2 |
| SKI | Shprintzen-Goldberg syndrome |
| SOX9 | Campomelic dysplasia; Acampomelic campomelic dysplasia; Campomelic dysplasia with autosomal sex reversal |
| TCF12 | Craniosynostosis-3 |
| TGFBR1 | Loeys-Dietz Syndrome; Multiple self-healing squamous epithelioma, susceptibility to |
| TGFBR2 | Loeys-Dietz Syndrome |
| TWIST1 | Craniosynostosis 1; Robinow-Sorauf syndrome; Saethre-Chotzen syndrome with or without eyelid anomalies; Sweeney-Cox syndrome |
| ZIC1 | Craniosynostosis 6; Structural brain anomalies with impaired intellectual development and craniosynostosis |