List of diseases covered by
Autism Spectrum Disorders NGS panel
| Gene | Condition |
| ADNP | Helsmoortel-van der Aa syndrome |
| ADSL | Adenylosuccinase deficiency |
| ANKRD11 | KBG syndrome |
| ARX | Mental retardation, X-linked 29 and others; Lissencephaly, X-linked 2; Epileptic encephalopathy, early infantile, 1; Partington syndrome; Proud syndrome |
| BCL11A | Dias-Logan syndrome |
| BRAF | Cardiofaciocutaneous syndrome; LEOPARD syndrome 3; Noonan syndrome 7 |
| CACNA1C | Timothy syndrome |
| CC2D1A | Mental retardation, autosomal recessive 3 |
| CDKL5 | Epileptic encephalopathy, early infantile, 2 |
| CHD2 | Epileptic encephalopathy, childhood-onset |
| CHD7 | CHARGE syndrome |
| CNOT3 | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| CNTNAP2 | Autism susceptibility 15; Pitt-Hopkins like syndrome 1 |
| COL4A3BP | Mental retardation, autosomal dominant 34 |
| C12ORF4 | Mental retardation, autosomal recessive 66 |
| CREBBP | Rubinstein-Taybi syndrome 1 |
| CSNK2A1 | Okur-Chung neurodevelopmental syndrome |
| DHCR7 | Smith-Lemli-Opitz syndrome |
| EHMT1 | Kleefstra syndrome 1 |
| FBXO11 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| FOXG1 | Rett syndrome, congenital variant |
| FOXP1 | Mental retardation with language impairment and with or without autistic features; Epilepsy, childhood absence, susceptibility to, 5 |
| FOXP2 | Speech-language disorder-1 |
| GABRB3 | Epileptic encephalopathy, early infantile, 43 |
| HDAC8 | Cornelia de Lange syndrome 5 |
| HOXA1 | Athabaskan brainstem dysgenesis syndrome |
| HPRT1 | Lesch-Nyhan syndrome; HPRT-related gout |
| KMT5B | Mental retardation, autosomal dominant 51 |
| MAGEL2 | Schaaf-Yang syndrome |
| MBOAT7 | Mental retardation, autosomal recessive 57 |
| MECP2 | Mental retardation, X-linked syndromic, Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome; Encephalopathy, neonatal severe |
| MED12 | Lujan-Fryns syndrome; Ohdo syndrome, X-linked; Opitz-Kaveggia syndrome |
| MID1 | Opitz GBBB syndrome, type I |
| NHS | Nance-Horan syndrome |
| NIPBL | Cornelia de Lange syndrome 1 |
| NLGN3 | Asperger syndrome susceptibility, X-linked 1; Autism susceptibility, X-linked 1 |
| NLGN4X | Mental retardation, X-linked; Asperger syndrome susceptibility, X-linked 2; Autism susceptibility, X-linked 2 |
| NRXN1 | Pitt-Hopkins-like syndrome 2; Schizophrenia, susceptibility to, 17 |
| NSD1 | Sotos syndrome 1 |
| PCDH19 | Epileptic encephalopathy, early infantile, 9 |
| PDE8B | Striatal degeneration, autosomal dominant; Pigmented nodular adrenocortical disease, primary, 3 |
| POGZ | White-Sutton syndrome |
| PTCHD1 | Autism, susceptibility to, X-linked 4 |
| PTEN | Macrocephaly/autism syndrome; VATER association with macrocephaly and ventriculomegaly; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1 |
| PTPN11 | LEOPARD syndrome 1; Noonan syndrome 1 |
| PQBP1 | Renpenning syndrome |
| RAD21 | Cornelia de Lange syndrome 4 |
| RAI1 | Smith-Magenis syndrome |
| RELN | Lissencephaly 2; Epilepsy, familial temporal lobe, 7 |
| RPL10 | Autism, susceptibility to, X-linked 5; Mental retardation, X-linked, syndromic, 35 |
| SCN1A | Epilepsy, generalized, with febrile seizures plus, type 2; Epileptic encephalopathy, early infantile, 6; Febrile seizures, familial, 3A; Migraine, familial hemiplegic, 3 |
| SCN2A | Epileptic encephalopathy, early infantile, 11; Seizures, benign familial infantile, 3 |
| SETD2 | Luscan-Lumish syndrome |
| SHANK2 | Autism susceptibility 17 |
| SHANK3 | Phelan-McDermid syndrome; Schizophrenia 15 |
| SLC6A4 | Anxiety-related personality traits; Obsessive-compulsive disorder |
| SLC6A8 | Cerebral creatine deficiency syndrome 1 |
| SLC9A9 | Autism susceptibility 16 |
| SMC3 | Cornelia de Lange syndrome 3 |
| SMC1A | Cornelia de Lange syndrome 2 |
| SNAP25 | Myasthenic syndrome, congenital, 18 |
| TBL1XR1 | Mental retardation, autosomal dominant 41; Pierpont syndrome |
| TBR1 | Intellectual developmental disorder with autism and speech delay |
| TCF4 | Pitt-Hopkins syndrome |
| TCF20 | Developmental delay with variable intellectual impairment and behavioral abnormalities |
| TRIP12 | Mental retardation, autosomal dominant 49 |
| TSC1 | Tuberous sclerosis-1 |
| TSC2 | Tuberous sclerosis-2 |
| UBE3A | Angelman syndrome |
| VPS13B | Cohen syndrome |
| WASF1 | Neurodevelopmental disorder with absent language and variable seizures |
| ZEB2 | Mowat-Wilson syndrome |